A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2678339



Internal ID9944444
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:131395247..131396837hg38UCSC Ensembl
chrX:130529221..130530811hg19UCSC Ensembl
CytobandXq26.2
Allele length
AssemblyAllele length
hg381591
hg191591
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6366127, essv6014716, essv5873535, essv6001536
SamplesNA18599, HG00449, NA18541, NA19078
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2678339
Frequency
Sample Size1151
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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