A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6990490



Internal ID12635841
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 StatusS
Merged Variantsesv34940
Supporting Variants
SamplesNA19203
Known GenesALKBH1, SLIRP, SNW1
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6990490
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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