A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2752130



Internal ID12985682
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:91030729..91486761hg38UCSC Ensembl
Innerchr6:91740447..92196479hg19UCSC Ensembl
Innerchr6:91797168..92253200hg18UCSC Ensembl
Innerchr6:91797168..92253200hg17UCSC Ensembl
Cytoband6q15
Allele length
AssemblyAllele length
hg38456033
hg19456033
hg18456033
hg17456033
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6984154, essv6987510, essv6988763
SamplesBEC_789
Known Genes
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)esv2752130
Frequency
Sample Size771
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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