A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6986160



Internal ID12973692
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:48644035..48702932hg38UCSC Ensembl
Innerchr6:48611771..48670675hg19UCSC Ensembl
Innerchr6:48719730..48778634hg18UCSC Ensembl
Innerchr6:48719730..48778634hg17UCSC Ensembl
Cytoband6p12.3
Allele length
AssemblyAllele length
hg3858898
hg1958905
hg1858905
hg1758905
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2752125
Supporting Variants
SamplesBEC_437
Known Genes
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Sty2 SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6986160
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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