A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2674783



Internal ID9940888
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:8818480..8820841hg38UCSC Ensembl
chrX:8786521..8788882hg19UCSC Ensembl
CytobandXp22.31
Allele length
AssemblyAllele length
hg382362
hg192362
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1394e199
Supporting Variantsessv5826657, essv6543017, essv5887945, essv6010460
SamplesNA20798, NA19678, HG01384, HG00237
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2674783
Frequency
Sample Size1151
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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