A curated catalogue of human genomic structural variation




Variant Details

Variant: esv34243



Internal ID12990282
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:19771320..20042948hg38UCSC Ensembl
Innerchr14:20239479..20511107hg19UCSC Ensembl
Innerchr14:19309319..19580947hg18UCSC Ensembl
Innerchr14:19309319..19580947hg17UCSC Ensembl
Cytoband14q11.2
Allele length
AssemblyAllele length
hg38271629
hg19271629
hg18271629
hg17271629
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6979444, essv6979443
SamplesNA18558
Known GenesOR4K1, OR4K13, OR4K14, OR4K15, OR4K2, OR4K5, OR4M1, OR4N2
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
CommentsSample level SV from stringent call set
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)esv34243
Frequency
Sample Size771
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer