A curated catalogue of human genomic structural variation




Variant Details

Variant: esv34606



Internal ID12990642
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:141423699..141481699hg38UCSC Ensembl
Innerchr2:142181268..142239268hg19UCSC Ensembl
Innerchr2:141897738..141955738hg18UCSC Ensembl
Innerchr2:142015000..142073000hg17UCSC Ensembl
Cytoband2q22.1
Allele length
AssemblyAllele length
hg3858001
hg1958001
hg1858001
hg1758001
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv161e55
Supporting Variantsessv6979166, essv6986801, essv6979165
SamplesNA18501
Known GenesLRP1B
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
CommentsSample level SV from stringent call set
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)esv34606
Frequency
Sample Size771
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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