A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2666813



Internal ID9932918
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
InnerchrX:115530685..115530880hg38UCSC Ensembl
OuterchrX:115530648..115530930hg38UCSC Ensembl
InnerchrX:114765012..114765207hg19UCSC Ensembl
OuterchrX:114764975..114765257hg19UCSC Ensembl
CytobandXq23
Allele length
AssemblyAllele length
hg38283
hg19283
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5664141, essv6284898, essv6385926
SamplesHG01187, NA18499, NA19395
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2666813
Frequency
Sample Size1151
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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