A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2675672



Internal ID9941777
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:37991517..37995112hg38UCSC Ensembl
chrX:37850770..37854365hg19UCSC Ensembl
CytobandXp11.4
Allele length
AssemblyAllele length
hg383596
hg193596
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5578138, essv6202485, essv5803300, essv6425384, essv5883918, essv6291683, essv6256290, essv5799508, essv5927239, essv5598121, essv5416241, essv5443539, essv6189581, essv6129350, essv6186583
SamplesNA19058, NA18923, NA19054, NA18986, HG01136, HG00556, NA20282, NA19756, HG00463, NA19729, NA19360, NA12347, NA18873, NA19463, NA19065
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2675672
Frequency
Sample Size1151
Observed Gain0
Observed Loss15
Observed Complex0
Frequencyn/a


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