A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6988707



Internal ID12629171
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:161188557..161384557hg38UCSC Ensembl
Innerchr6:161609589..161805589hg19UCSC Ensembl
Innerchr6:161529579..161725579hg18UCSC Ensembl
Innerchr6:161580000..161776000hg17UCSC Ensembl
Cytoband6q26
Allele length
AssemblyAllele length
hg38196001
hg19196001
hg18196001
hg17196001
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2752091
Supporting Variants
SamplesBEC_620
Known GenesAGPAT4, PARK2
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Sty2 SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6988707
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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