A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2656993



Internal ID9923098
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
InnerchrX:64785205..64842336hg38UCSC Ensembl
OuterchrX:64785048..64842497hg38UCSC Ensembl
InnerchrX:64005085..64062216hg19UCSC Ensembl
OuterchrX:64004928..64062377hg19UCSC Ensembl
CytobandXq11.2
Allele length
AssemblyAllele length
hg3857450
hg1957450
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5706682, essv5976708, essv5593294, essv6369660
SamplesNA18526, NA18544, NA18566, NA19059
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2656993
Frequency
Sample Size1151
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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