A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6987705



Internal ID12636985
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:162222557..162459557hg38UCSC Ensembl
Innerchr6:162643589..162880589hg19UCSC Ensembl
Innerchr6:162563579..162800579hg18UCSC Ensembl
Innerchr6:162614000..162851000hg17UCSC Ensembl
Cytoband6q26
Allele length
AssemblyAllele length
hg38237001
hg19237001
hg18237001
hg17237001
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)essv6987705
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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