A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6986398



Internal ID12628430
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:161900345..162191087hg38UCSC Ensembl
Innerchr6:162321377..162612119hg19UCSC Ensembl
Innerchr6:162241367..162532109hg18UCSC Ensembl
Innerchr6:162291788..162582530hg17UCSC Ensembl
Cytoband6q26
Allele length
AssemblyAllele length
hg38290743
hg19290743
hg18290743
hg17290743
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)essv6986398
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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