A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2752098



Internal ID12638964
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:162310311..162530557hg38UCSC Ensembl
Innerchr6:162731343..162951589hg19UCSC Ensembl
Innerchr6:162651333..162871579hg18UCSC Ensembl
Innerchr6:162701754..162922000hg17UCSC Ensembl
Cytoband6q26
Allele length
AssemblyAllele length
hg38220247
hg19220247
hg18220247
hg17220247
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6988461, essv6985688, essv6981882, essv6981881, essv6981880
SamplesBEC_497
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)esv2752098
Frequency
Sample Size771
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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