A curated catalogue of human genomic structural variation




Variant Details

Variant: esv35015



Internal ID12991051
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:74321621..74444427hg38UCSC Ensembl
Innerchr6:75031337..75154143hg19UCSC Ensembl
Innerchr6:75088057..75210863hg18UCSC Ensembl
Innerchr6:75088057..75210863hg17UCSC Ensembl
Cytoband6q13
Allele length
AssemblyAllele length
hg38122807
hg19122807
hg18122807
hg17122807
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6980186, essv6987734, essv6980185, essv6987733
SamplesNA18967
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)esv35015
Frequency
Sample Size771
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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