A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2667042



Internal ID9933147
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:131644579..131659445hg38UCSC Ensembl
chrX:130778582..130793458hg19UCSC Ensembl
CytobandXq26.2
Allele length
AssemblyAllele length
hg3814867
hg1914877
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6081980, essv5593870, essv5615866
SamplesHG00634, NA18951, NA19060
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2667042
Frequency
Sample Size1151
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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