A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2756708



Internal ID12971546
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:30209568..30374391hg38UCSC Ensembl
Innerchr20:29444244..29609067hg19UCSC Ensembl
Innerchr20:28057905..28222728hg18UCSC Ensembl
Cytoband20q11.1
Allele length
AssemblyAllele length
hg38164824
hg19164824
hg18164824
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv101811
SamplesNA18502
Known Genes
MethodSNP array
AnalysisWe searched through the HapMap samples for gaps in long segmental sharing, which exhibited this characteristic of loss of heterozygosity as well as a high rate of IBS mismatches.
Platform[Mapping250K_Nsp] Affymetrix Mapping 250K Nsp SNP Array
Comments
ReferenceGusev_et_al_2009
Pubmed ID18971310
Accession Number(s)esv2756708
Frequency
Sample Size270
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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