A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6986316



Internal ID12627953
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:162310311..162478539hg38UCSC Ensembl
Innerchr6:162731343..162899571hg19UCSC Ensembl
Innerchr6:162651333..162819561hg18UCSC Ensembl
Innerchr6:162701754..162869982hg17UCSC Ensembl
Cytoband6q26
Allele length
AssemblyAllele length
hg38168229
hg19168229
hg18168229
hg17168229
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2752094
Supporting Variants
SamplesBEC_531
Known GenesPARK2
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6986316
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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