A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6982994



Internal ID12627948
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:162314849..162491482hg38UCSC Ensembl
Innerchr6:162735881..162912514hg19UCSC Ensembl
Innerchr6:162655871..162832504hg18UCSC Ensembl
Innerchr6:162706292..162882925hg17UCSC Ensembl
Cytoband6q26
Allele length
AssemblyAllele length
hg38176634
hg19176634
hg18176634
hg17176634
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)essv6982994
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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