A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2660174



Internal ID9926279
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
InnerchrX:88985735..88987656hg38UCSC Ensembl
OuterchrX:88985698..88987706hg38UCSC Ensembl
InnerchrX:88240736..88242657hg19UCSC Ensembl
OuterchrX:88240699..88242707hg19UCSC Ensembl
CytobandXq21.31
Allele length
AssemblyAllele length
hg382009
hg192009
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6511265, essv5852422
SamplesNA20806, HG00133
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2660174
Frequency
Sample Size1151
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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