A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2671251



Internal ID9590670
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:41355008..41356334hg38UCSC Ensembl
chrX:41214261..41215587hg19UCSC Ensembl
CytobandXp11.4
Allele length
AssemblyAllele length
hg381327
hg191327
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5929952, essv5983108, essv6512601, essv5566140, essv5789601
SamplesHG00640, HG01067, HG01048, HG01190, HG01055
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2671251
Frequency
Sample Size1151
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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