A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6988649



Internal ID12628437
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:142197460..142296460hg38UCSC Ensembl
Innerchr3:141916302..142015302hg19UCSC Ensembl
Innerchr3:143398992..143497992hg18UCSC Ensembl
Innerchr3:143399000..143498000hg17UCSC Ensembl
Cytoband3q23
Allele length
AssemblyAllele length
hg3899001
hg1999001
hg1899001
hg1799001
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2751979
Supporting Variants
SamplesBEC_563
Known GenesGK5
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6988649
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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