A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2752094



Internal ID12638960
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:162086557..162496645hg38UCSC Ensembl
Innerchr6:162507589..162917677hg19UCSC Ensembl
Innerchr6:162427579..162837667hg18UCSC Ensembl
Innerchr6:162478000..162888088hg17UCSC Ensembl
Cytoband6q26
Allele length
AssemblyAllele length
hg38410089
hg19410089
hg18410089
hg17410089
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6986316, essv6982991, essv6982994, essv6982992, essv6982993
SamplesBEC_531
Known GenesPARK2
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Affymetrix Mapping 250K Sty2 SNP Array
CommentsSample level SV from stringent call set
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)esv2752094
Frequency
Sample Size771
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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