A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6984894



Internal ID12637000
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:162222395..162459462hg38UCSC Ensembl
Innerchr6:162643427..162880494hg19UCSC Ensembl
Innerchr6:162563417..162800484hg18UCSC Ensembl
Innerchr6:162613838..162850905hg17UCSC Ensembl
Cytoband6q26
Allele length
AssemblyAllele length
hg38237068
hg19237068
hg18237068
hg17237068
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 Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6984894
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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