A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6982526



Internal ID12628454
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:161923680..162288916hg38UCSC Ensembl
Innerchr6:162344712..162709948hg19UCSC Ensembl
Innerchr6:162264702..162629938hg18UCSC Ensembl
Innerchr6:162315123..162680359hg17UCSC Ensembl
Cytoband6q26
Allele length
AssemblyAllele length
hg38365237
hg19365237
hg18365237
hg17365237
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 Sty2 SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6982526
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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