A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2672539



Internal ID9938644
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:103524028..103554198hg38UCSC Ensembl
chrX:102778956..102809126hg19UCSC Ensembl
CytobandXq22.2
Allele length
AssemblyAllele length
hg3830171
hg1930171
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6238063, essv6255233, essv6234989, essv6401184, essv5420304, essv5630946, essv5520664, essv5970587, essv5553929, essv6220174, essv6304710, essv6186949, essv5972055, essv5584744, essv6332121, essv5428184, essv5745686, essv6209789, essv6466670, essv5713339, essv5546484, essv6362110, essv5694352, essv5468665, essv6383316, essv5771956
SamplesNA12842, NA10851, NA20783, HG01079, NA18486, NA20805, NA19448, HG00238, NA20513, NA11930, NA19189, NA20515, HG00149, NA20760, NA20770, HG00273, NA12829, NA18856, HG00152, HG00155, NA20801, HG00280, NA11843, NA19213, HG00252, NA19312
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2672539
Frequency
Sample Size1151
Observed Gain0
Observed Loss26
Observed Complex0
Frequencyn/a


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