A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6986006



Internal ID12635843
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:77642204..77733404hg38UCSC Ensembl
Innerchr14:78108547..78199747hg19UCSC Ensembl
Innerchr14:77178300..77269500hg18UCSC Ensembl
Innerchr14:77178300..77269500hg17UCSC Ensembl
Cytoband14q24.3
Allele length
AssemblyAllele length
hg3891201
hg1991201
hg1891201
hg1791201
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 Sty2 SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6986006
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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