A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6988548



Internal ID12628445
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:161901300..162195980hg38UCSC Ensembl
Innerchr6:162322332..162617012hg19UCSC Ensembl
Innerchr6:162242322..162537002hg18UCSC Ensembl
Innerchr6:162292743..162587423hg17UCSC Ensembl
Cytoband6q26
Allele length
AssemblyAllele length
hg38294681
hg19294681
hg18294681
hg17294681
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2752093
Supporting Variants
SamplesBEC_563
Known GenesPARK2
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6988548
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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