A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6985786



Internal ID12637330
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:176980..252963hg38UCSC Ensembl
Innerchr3:218663..294646hg19UCSC Ensembl
Innerchr3:193663..269646hg18UCSC Ensembl
Innerchr3:193663..269646hg17UCSC Ensembl
Cytoband3p26.3
Allele length
AssemblyAllele length
hg3875984
hg1975984
hg1875984
hg1775984
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2751984
Supporting Variants
SamplesSPC_47
Known GenesCHL1
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Sty2 SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6985786
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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