A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2752096



Internal ID12638962
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:162222395..162478539hg38UCSC Ensembl
Innerchr6:162643427..162899571hg19UCSC Ensembl
Innerchr6:162563417..162819561hg18UCSC Ensembl
Innerchr6:162613838..162869982hg17UCSC Ensembl
Cytoband6q26
Allele length
AssemblyAllele length
hg38256145
hg19256145
hg18256145
hg17256145
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6984896, essv6984895, essv6984894, essv6988864, essv6987705
SamplesSPC_19
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)esv2752096
Frequency
Sample Size771
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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