A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6988398



Internal ID12972040
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:14219975..14228844hg38UCSC Ensembl
Innerchr2:14360099..14368968hg19UCSC Ensembl
Innerchr2:14277550..14286419hg18UCSC Ensembl
Innerchr2:14310697..14319566hg17UCSC Ensembl
Cytoband2p24.3
Allele length
AssemblyAllele length
hg388870
hg198870
hg188870
hg178870
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2751827
Supporting Variants
SamplesBEC_175
Known Genes
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6988398
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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