A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2673692



Internal ID9939797
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:122646306..122653682hg38UCSC Ensembl
chrX:121780159..121787535hg19UCSC Ensembl
CytobandXq25
Allele length
AssemblyAllele length
hg387377
hg197377
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5773584, essv6210244, essv5887524, essv6072066
SamplesNA19397, NA19396, NA19404, NA20322
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2673692
Frequency
Sample Size1151
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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