A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2659904



Internal ID9579323
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:2131551..2131717hg38UCSC Ensembl
Outerchr19:2131394..2131887hg38UCSC Ensembl
Innerchr19:2131550..2131716hg19UCSC Ensembl
Outerchr19:2131393..2131886hg19UCSC Ensembl
Cytoband19p13.3
Allele length
AssemblyAllele length
hg38494
hg19494
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5483695, essv6287924, essv5404985, essv6583245, essv6156982, essv6087257, essv6410229, essv5428123, essv6516325, essv6340873, essv6258658, essv6398903, essv6468037, essv5996128, essv5913355, essv5609300, essv5444375, essv6354908, essv5674197, essv5730325, essv6266860, essv5848924, essv6565631, essv6403712, essv6182153, essv6563487, essv5830391, essv5465953, essv6170534, essv5590589, essv5923960, essv6284998, essv6114057, essv6504952, essv6444133, essv5973704, essv5804083, essv5930224, essv5680539, essv6420215, essv5749748, essv6064778, essv6152112, essv5969101
SamplesNA19394, NA18502, NA18621, HG00249, NA18861, NA19332, NA12843, NA19350, HG01465, NA19819, HG00261, HG00271, NA19313, NA19384, HG00335, NA18868, NA19189, NA18520, NA19451, HG00154, NA19437, HG00443, HG00328, HG00245, NA18516, HG00320, HG00708, HG00740, HG01102, HG00273, NA19449, HG00704, NA19469, NA18536, NA19395, NA18909, NA19108, HG00580, NA19331, NA19311, NA19223, HG00329, HG01191, NA19431
Known GenesAP3D1
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2659904
Frequency
Sample Size1151
Observed Gain0
Observed Loss44
Observed Complex0
Frequencyn/a


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