A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6982992



Internal ID12627933
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:162288916..162496645hg38UCSC Ensembl
Innerchr6:162709948..162917677hg19UCSC Ensembl
Innerchr6:162629938..162837667hg18UCSC Ensembl
Innerchr6:162680359..162888088hg17UCSC Ensembl
Cytoband6q26
Allele length
AssemblyAllele length
hg38207730
hg19207730
hg18207730
hg17207730
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 Sty2 SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6982992
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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