A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6986498



Internal ID12629176
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:161188115..161384675hg38UCSC Ensembl
Innerchr6:161609147..161805707hg19UCSC Ensembl
Innerchr6:161529137..161725697hg18UCSC Ensembl
Innerchr6:161579558..161776118hg17UCSC Ensembl
Cytoband6q26
Allele length
AssemblyAllele length
hg38196561
hg19196561
hg18196561
hg17196561
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)essv6986498
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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