A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2673833



Internal ID9939938
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
InnerchrX:121667837..121798702hg38UCSC Ensembl
OuterchrX:121667803..121798737hg38UCSC Ensembl
InnerchrX:120801690..120932555hg19UCSC Ensembl
OuterchrX:120801656..120932590hg19UCSC Ensembl
CytobandXq24
Allele length
AssemblyAllele length
hg38130935
hg19130935
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6267071
SamplesHG00369
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2673833
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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