A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6985562



Internal ID12973250
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:43339147..43738347hg38UCSC Ensembl
Innerchr14:43808350..44207550hg19UCSC Ensembl
Innerchr14:42878100..43277300hg18UCSC Ensembl
Innerchr14:42878100..43277300hg17UCSC Ensembl
Cytoband14q21.2
Allele length
AssemblyAllele length
hg38399201
hg19399201
hg18399201
hg17399201
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 Sty2 SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6985562
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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