A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2656958



Internal ID9923063
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:73952967..73956896hg38UCSC Ensembl
chrX:73172802..73176731hg19UCSC Ensembl
CytobandXq13.2
Allele length
AssemblyAllele length
hg383930
hg193930
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5447676, essv5478765, essv6210867, essv5534934
SamplesNA19731, NA19789, NA19716, NA19755
Known GenesJPX
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2656958
Frequency
Sample Size1151
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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