A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6985563



Internal ID12973251
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:43349047..43754847hg38UCSC Ensembl
Innerchr14:43818250..44224050hg19UCSC Ensembl
Innerchr14:42888000..43293800hg18UCSC Ensembl
Innerchr14:42888000..43293800hg17UCSC Ensembl
Cytoband14q21.2
Allele length
AssemblyAllele length
hg38405801
hg19405801
hg18405801
hg17405801
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2751276
Supporting Variants
SamplesBEC_395
Known Genes
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6985563
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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