A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2751212



Internal ID12984764
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:19734966..19957752hg38UCSC Ensembl
Innerchr14:20203125..20425911hg19UCSC Ensembl
Innerchr14:19272965..19495751hg18UCSC Ensembl
Innerchr14:19272965..19495751hg17UCSC Ensembl
Cytoband14q11.2
Allele length
AssemblyAllele length
hg38222787
hg19222787
hg18222787
hg17222787
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv80e55
Supporting Variantsessv6985747, essv6985748, essv6987245
SamplesSPC_4
Known GenesOR4K1, OR4K2, OR4K5, OR4M1, OR4N2, OR4Q3
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)esv2751212
Frequency
Sample Size771
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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