A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2751285



Internal ID12638151
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:66898030..67420064hg38UCSC Ensembl
Innerchr14:67364747..67886781hg19UCSC Ensembl
Innerchr14:66434500..66956534hg18UCSC Ensembl
Innerchr14:66434500..66956534hg17UCSC Ensembl
Cytoband14q23.3
Allele length
AssemblyAllele length
hg38522035
hg19522035
hg18522035
hg17522035
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6982516, essv6986198, essv6982515, essv6988546, essv6986197
SamplesBEC_462
Known GenesATP6V1D, EIF2S1, FAM71D, GPHN, MPP5, PLEK2
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)esv2751285
Frequency
Sample Size771
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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