A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6982632



Internal ID12628605
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:187192697..187376697hg38UCSC Ensembl
Innerchr4:188113851..188297851hg19UCSC Ensembl
Innerchr4:188350845..188534845hg18UCSC Ensembl
Innerchr4:188489000..188673000hg17UCSC Ensembl
Cytoband4q35.2
Allele length
AssemblyAllele length
hg38184001
hg19184001
hg18184001
hg17184001
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2752041
Supporting Variants
SamplesBEC_573
Known GenesLOC339975
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Sty2 SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6982632
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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