A curated catalogue of human genomic structural variation




Variant Details

Variant: esv34940



Internal ID12644290
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:77638554..77756455hg38UCSC Ensembl
Innerchr14:78104897..78222798hg19UCSC Ensembl
Innerchr14:77174650..77292551hg18UCSC Ensembl
Innerchr14:77174650..77292551hg17UCSC Ensembl
Cytoband14q24.3
Allele length
AssemblyAllele length
hg38117902
hg19117902
hg18117902
hg17117902
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6990490, essv6980501, essv6986006
SamplesNA19203
Known GenesALKBH1, SLIRP, SNW1
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Affymetrix Mapping 250K Sty2 SNP Array
CommentsSample level SV from stringent call set
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)esv34940
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