A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2756707



Internal ID12971545
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:54201720..54237487hg38UCSC Ensembl
Innerchr19:54705588..54741363hg19UCSC Ensembl
Innerchr19:59397400..59433175hg18UCSC Ensembl
Cytoband19q13.42
Allele length
AssemblyAllele length
hg3835768
hg1935776
hg1835776
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv101799
SamplesNA19238
Known GenesLILRA6, LILRB3, RPS9
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)esv2756707
Frequency
Sample Size270
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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