A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6988532



Internal ID12973678
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:48608227..48750952hg38UCSC Ensembl
Innerchr6:48575963..48718589hg19UCSC Ensembl
Innerchr6:48683922..48826548hg18UCSC Ensembl
Innerchr6:48683922..48826548hg17UCSC Ensembl
Cytoband6p12.3
Allele length
AssemblyAllele length
hg38142726
hg19142627
hg18142627
hg17142627
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 Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6988532
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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