A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2670583



Internal ID9936688
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:24093138..24098577hg38UCSC Ensembl
chrX:24111255..24116694hg19UCSC Ensembl
CytobandXp22.11
Allele length
AssemblyAllele length
hg385440
hg195440
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6035143, essv6440203, essv5840613, essv6426069, essv5871927, essv6100601, essv5605923, essv6199544, essv5555522, essv5930584, essv6228296, essv5556094, essv5804986, essv6393484, essv5582872, essv6526183
SamplesHG00231, HG00247, HG00281, HG00277, NA20533, HG00323, HG00313, HG00154, HG00328, HG00275, NA20538, HG00353, HG00278, HG01174, HG00111, HG00123
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2670583
Frequency
Sample Size1151
Observed Gain0
Observed Loss16
Observed Complex0
Frequencyn/a


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