A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2672416



Internal ID9591835
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:75806128..75922895hg38UCSC Ensembl
chrX:75025963..75142730hg19UCSC Ensembl
CytobandXq13.3
Allele length
AssemblyAllele length
hg38116768
hg19116768
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5452444, essv6271432, essv6387400, essv6412223, essv6498472, essv5677640, essv6147374, essv6455588, essv6432225, essv6001711, essv5620274, essv5964772, essv6412329, essv5921559, essv6285840, essv5836191
SamplesHG00592, HG00244, HG01140, NA20589, HG01365, HG01069, HG00683, HG01133, NA12342, NA19347, NA19982, HG01149, NA19380, HG01137, HG01491, NA19346
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2672416
Frequency
Sample Size1151
Observed Gain0
Observed Loss16
Observed Complex0
Frequencyn/a


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