A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2666371



Internal ID9932476
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:94145915..94149722hg38UCSC Ensembl
chrX:93400914..93404721hg19UCSC Ensembl
CytobandXq21.32
Allele length
AssemblyAllele length
hg383808
hg193808
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6259837, essv6254607, essv6152854, essv5783183, essv5807172, essv5712999, essv6004291, essv6280718, essv6270657, essv6295892, essv6440041, essv5661941, essv5747095, essv5567237, essv6588183, essv6554064, essv5879196, essv5438665, essv5692887, essv6026378, essv6550258, essv6407854, essv6079989, essv5579682, essv5563675, essv5866492, essv6533862, essv6144118, essv6315716, essv6422556
SamplesNA19701, NA18592, NA18508, NA12004, NA18616, NA18870, HG00261, NA19076, HG01168, NA18567, HG00610, NA19235, NA19657, NA18538, HG00596, HG00701, HG00692, HG00651, NA18856, HG00144, NA18541, HG00476, NA18542, HG00155, NA18535, HG00672, HG00513, NA18631, NA19713, NA18505
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2666371
Frequency
Sample Size1151
Observed Gain0
Observed Loss30
Observed Complex0
Frequencyn/a


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