A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2668773



Internal ID9588192
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:121844957..121845474hg38UCSC Ensembl
chr12:122282863..122283380hg19UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg38518
hg19518
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv322e199
Supporting Variantsessv5558626, essv5658872, essv6547868, essv5793928, essv5976930, essv5441800, essv6134692, essv6270574, essv6294131, essv5501143, essv6437838, essv6145757, essv5918745, essv5622400, essv5451121, essv5949307, essv6591136, essv5670107, essv5817149, essv5554445, essv5444789, essv5969991, essv5749915, essv6028209, essv5686301, essv5802735, essv6246231, essv5842828, essv5780529, essv5476458, essv5808516, essv5932193, essv6003126, essv5596352, essv5880757, essv5602087, essv6384094, essv5838181, essv6391879, essv6079901, essv6153537, essv5555794, essv6135633
SamplesNA18924, NA19399, NA19350, NA18486, NA20356, NA19920, NA19374, NA18519, NA19315, NA19197, NA20336, NA19904, NA19384, NA19130, NA19383, NA18874, NA20340, NA19371, NA20342, NA19445, NA19403, NA18516, NA18910, NA18907, NA18853, NA18523, NA19469, NA19834, NA19380, NA19835, NA19439, HG01489, HG01342, NA20341, NA19472, NA19223, NA19468, NA19102, NA18873, NA19711, NA19312, HG01125, NA19463
Known GenesHPD
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2668773
Frequency
Sample Size1151
Observed Gain0
Observed Loss43
Observed Complex0
Frequencyn/a


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