A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6981364



Internal ID12973235
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:43349029..43786608hg38UCSC Ensembl
Innerchr14:43818232..44255811hg19UCSC Ensembl
Innerchr14:42887982..43325561hg18UCSC Ensembl
Innerchr14:42887982..43325561hg17UCSC Ensembl
Cytoband14q21.2
Allele length
AssemblyAllele length
hg38437580
hg19437580
hg18437580
hg17437580
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)essv6981364
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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