A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6988734



Internal ID12977425
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:21745401..22170865hg38UCSC Ensembl
Innerchr3:21786893..22212357hg19UCSC Ensembl
Innerchr3:21761897..22187361hg18UCSC Ensembl
Innerchr3:21761897..22187361hg17UCSC Ensembl
Cytoband3p24.3
Allele length
AssemblyAllele length
hg38425465
hg19425465
hg18425465
hg17425465
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2751992
Supporting Variants
SamplesBEC_736
Known GenesZNF385D
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6988734
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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