A curated catalogue of human genomic structural variation




Variant Details

Variant: essv101798



Internal ID12971334
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:89593437..89683242hg38UCSC Ensembl
Innerchr3:89642587..89732392hg19UCSC Ensembl
Innerchr3:89725277..89815082hg18UCSC Ensembl
Cytoband3p11.1
Allele length
AssemblyAllele length
hg3889806
hg1989806
hg1889806
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2756698
Supporting Variants
SamplesNA19238
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)essv101798
Frequency
Sample Size270
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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