A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2658514



Internal ID9577933
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:36018902..36019655hg38UCSC Ensembl
chr4:36020524..36021277hg19UCSC Ensembl
Cytoband4p14
Allele length
AssemblyAllele length
hg38754
hg19754
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5685100, essv6323037, essv6220880, essv6173361, essv6047730, essv5756281, essv6383188, essv5509057, essv6414242, essv5487583, essv5458521, essv5766186, essv6266142, essv6199953, essv5857370, essv6107730, essv5858998, essv6476270, essv5410192, essv6563823, essv5892322, essv5668403, essv6469917, essv5598371, essv6197044, essv5690317, essv6009529, essv5996078, essv5659902, essv5502085, essv6058099, essv6096476, essv6020189, essv5631013, essv5409425, essv5689496, essv6430135, essv6102217, essv5519991, essv6420859, essv5464303, essv6547304, essv6084601, essv5894770, essv5892614, essv5683509, essv6386217, essv5905222, essv6580328, essv5764433, essv6446103, essv5572842, essv5463394, essv5864165, essv6000190, essv6053210, essv5886824, essv5773580, essv5733268, essv6082690, essv6034605, essv5620240, essv5619332, essv6416455, essv6045719, essv5936175, essv6555391, essv6478621, essv6353151, essv5445488, essv6113262, essv5488037, essv5941736, essv6550763, essv5398989, essv5635189, essv6123907, essv6367407
SamplesNA19394, NA19701, NA19700, NA19397, NA18924, NA19909, NA18861, HG01389, NA19092, NA20294, NA19355, NA19819, NA19443, NA19446, NA19374, HG01250, NA19373, NA19315, NA19448, HG01167, NA18916, NA19138, NA18498, NA19404, HG01134, HG01067, NA18868, NA19917, NA19372, NA19371, NA19235, NA19385, NA19172, NA19471, NA19445, NA20127, NA18908, NA19985, NA19451, NA19210, HG01171, NA19707, NA19462, NA18516, NA18871, NA20344, NA18907, NA19453, NA18912, NA19338, NA19257, NA19318, NA19395, NA19436, NA19375, NA19440, NA18909, NA19321, NA19108, NA19712, NA19434, NA19435, NA19444, NA19334, NA19470, NA19428, NA19360, HG01342, NA19818, NA18501, NA20348, NA19472, NA19713, NA18873, NA19116, NA19711, NA19463, NA18522
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2658514
Frequency
Sample Size1151
Observed Gain0
Observed Loss78
Observed Complex0
Frequencyn/a


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