A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6984896



Internal ID12637002
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:162226212..162442968hg38UCSC Ensembl
Innerchr6:162647244..162864000hg19UCSC Ensembl
Innerchr6:162567234..162783990hg18UCSC Ensembl
Innerchr6:162617655..162834411hg17UCSC Ensembl
Cytoband6q26
Allele length
AssemblyAllele length
hg38216757
hg19216757
hg18216757
hg17216757
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2752096
Supporting Variants
SamplesSPC_19
Known GenesPARK2
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Sty2 SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6984896
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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