A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6980501



Internal ID12635853
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:77642212..77733405hg38UCSC Ensembl
Innerchr14:78108555..78199748hg19UCSC Ensembl
Innerchr14:77178308..77269501hg18UCSC Ensembl
Innerchr14:77178308..77269501hg17UCSC Ensembl
Cytoband14q24.3
Allele length
AssemblyAllele length
hg3891194
hg1991194
hg1891194
hg1791194
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)essv6980501
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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