A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2657128



Internal ID9923233
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:1950285..1951826hg38UCSC Ensembl
chr19:1950284..1951825hg19UCSC Ensembl
Cytoband19p13.3
Allele length
AssemblyAllele length
hg381542
hg191542
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5882063, essv5705766, essv5429320, essv6565796, essv5770001, essv6365425, essv6421959, essv6011729, essv6087264, essv5727280, essv5816216, essv5894320, essv6066225, essv5652218, essv5935544, essv6423204, essv5811142, essv5672090, essv5612764, essv6554082, essv6308890, essv5679363, essv5591664, essv6039350, essv5995288, essv5684804, essv6060620, essv5564805, essv5736276, essv6303365, essv6264506, essv5690254, essv5822042, essv6132977, essv5624229, essv5936098, essv5508957, essv5808442, essv6396399, essv6132154, essv5633484, essv5470622, essv5928239, essv5487116, essv5622141, essv5776695, essv5947599, essv5900885, essv5855160, essv6231251, essv5506628, essv6256690, essv6133544, essv5745865, essv6073334, essv6297604, essv6219352, essv6365469, essv5893201, essv6330628, essv5965007, essv6147839, essv6522793, essv6049596, essv5577829, essv5891044, essv6279674, essv6133756, essv6276666, essv5894537, essv6414263, essv6147861, essv5995091, essv6416746, essv5833657, essv5675221, essv5447768, essv6131199, essv5564312, essv6202322, essv6225839, essv5961698, essv5458830, essv6393982, essv6372135, essv5506117, essv6430269, essv6058078, essv6150518, essv5502555, essv6347944, essv5439713, essv5935014, essv6277655, essv5716685, essv5438864, essv5912405, essv5559119, essv5430078, essv6396962, essv5704443, essv6319795, essv5931826, essv6232788, essv6250209, essv5672359, essv6444591, essv6157829, essv6525806, essv6435731, essv6211787, essv6038381, essv6503766, essv5915279, essv5544503, essv6362417, essv6076945, essv5522328, essv6419737, essv6210069, essv5878180, essv5716961, essv6589685, essv5796639, essv5770832, essv5421006, essv6544280, essv6304394, essv5690315, essv5479356, essv6062104, essv6435119, essv6387659
SamplesHG00626, HG00650, HG00542, NA19703, HG00536, HG00231, NA19397, HG00608, HG00671, HG00524, HG01374, NA18999, NA18917, HG00640, NA20294, NA18545, NA19393, NA19057, NA20332, NA19684, NA18959, NA18616, HG00449, HG01461, NA12400, NA19067, HG01140, HG00693, NA07346, NA19068, NA19746, NA19381, NA19379, HG00589, NA19319, NA19315, HG01351, NA19448, NA18595, HG00448, NA19916, NA12348, HG00610, NA19457, HG01365, NA19681, NA19130, HG01080, NA18868, HG00325, HG00262, NA19719, NA18560, NA19235, NA19317, HG00427, NA18990, NA20757, NA18908, NA18867, NA19921, NA19451, NA18544, HG00560, HG00629, NA19657, NA18538, NA19082, NA19070, NA19347, HG00190, HG00577, NA19391, NA19717, NA18516, HG00436, NA19982, HG00584, HG00583, NA18637, HG01498, NA19788, NA18548, HG01390, HG01102, NA19461, NA19449, NA19655, HG01383, HG00140, NA18555, HG00276, HG00146, NA19682, NA19469, NA18536, NA19003, NA19652, NA19440, NA20801, HG00254, HG00119, NA18535, HG00625, HG00357, NA19444, HG01357, NA19083, HG01108, NA19360, NA07037, NA18615, HG01489, NA20341, NA19818, HG00513, NA19785, NA19472, NA19060, NA19713, NA19474, NA18873, HG00698, HG00280, NA19116, NA19080, NA19213, NA19900, NA18983, HG00595, NA18549, NA18622, HG00593
Known GenesCSNK1G2
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2657128
Frequency
Sample Size1151
Observed Gain0
Observed Loss133
Observed Complex0
Frequencyn/a


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