A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2752125



Internal ID12985677
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 StatusM
Merged Variants
Supporting Variantsessv6982408, essv6986159, essv6982407, essv6988532, essv6986160
SamplesBEC_437
Known Genes
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Affymetrix Mapping 250K Sty2 SNP Array
CommentsSample level SV from stringent call set
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)esv2752125
Frequency
Sample Size771
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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