A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2669434



Internal ID9588853
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:16676089..16676297hg38UCSC Ensembl
chr19:16786900..16787108hg19UCSC Ensembl
Cytoband19p13.11
Allele length
AssemblyAllele length
hg38209
hg19209
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5914716, essv5765636, essv5862761, essv6075358, essv5688096, essv6422642, essv6465747, essv6041237, essv6025145, essv5949185, essv5776792, essv5642898, essv5424069, essv6543046, essv5713084, essv6220893, essv6555882, essv5616447, essv5614854, essv6273734, essv6238641, essv5598736, essv5722656, essv5773005, essv6563718, essv5928019, essv6072920, essv5750548, essv6395503, essv5500501, essv5755877, essv5445150, essv6592057, essv5906928, essv5829995, essv6195792, essv5610563, essv5654216, essv5913422, essv6340375, essv5606229, essv5458532, essv6324164, essv6597225, essv6410600, essv6417114, essv6547864, essv6217090, essv6023016, essv6039634, essv6364503, essv5827228, essv6022386, essv5441997, essv5872475, essv6294744, essv5727879, essv5456286, essv5467391, essv6523348, essv5429432, essv6333793, essv6420252, essv6336521, essv6365111, essv5578980, essv5769425, essv5744186, essv6402782, essv5578614, essv5703157, essv6235588, essv6582938, essv6082853, essv6542526, essv5693716, essv6007670, essv5989907, essv6129514, essv6485287, essv6195242, essv6250875, essv6154991, essv5978828, essv5605130, essv5782082, essv6072387, essv5811255, essv5806201, essv6237586, essv6209422, essv5655448, essv5926205, essv6537469, essv5525580, essv5570490, essv5532909, essv5553463, essv6197033, essv6410778, essv6579144, essv5579908, essv5769896, essv6575576, essv5724922
SamplesNA19394, NA19701, NA19700, HG01462, NA18508, HG01359, HG01374, NA18917, NA19350, NA19359, NA19092, NA20294, NA19355, NA19377, NA20356, NA18510, HG00271, HG01250, NA19381, NA18519, NA19319, NA19382, NA18489, NA19198, NA19916, NA19197, NA19313, NA18498, NA20336, NA19130, NA19404, HG01134, NA19383, NA18874, NA18868, NA19372, NA11994, NA19471, NA19901, NA19239, NA20127, NA18908, NA18867, NA19921, NA19451, NA19908, NA19210, HG01360, NA19403, NA19462, NA19347, HG01095, NA19327, NA19455, NA19236, NA18910, NA18871, HG01094, NA19461, HG01197, NA18499, NA18856, NA20282, NA19225, NA18523, NA19469, NA19318, NA19395, NA19625, NA20296, NA19401, NA19375, NA19834, NA19256, NA19712, NA19473, NA19240, NA19380, NA19835, NA19439, NA19428, NA19467, HG01108, NA20281, HG01342, HG00339, NA19398, NA18501, NA20348, NA19248, NA19438, NA20334, NA19468, NA19102, NA18873, NA19770, NA19213, NA19900, NA18505, NA18488, NA18511, NA12154, NA19429, NA19346, NA18487
Known GenesTMEM38A
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2669434
Frequency
Sample Size1151
Observed Gain0
Observed Loss105
Observed Complex0
Frequencyn/a


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