A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2752088



Internal ID12985640
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:111702104..111754104hg38UCSC Ensembl
Innerchr6:112023307..112075307hg19UCSC Ensembl
Innerchr6:112130000..112182000hg18UCSC Ensembl
Innerchr6:112130000..112182000hg17UCSC Ensembl
Cytoband6q21
Allele length
AssemblyAllele length
hg3852001
hg1952001
hg1852001
hg1752001
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6983650, essv6983651
SamplesBEC_676
Known GenesFYN
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)esv2752088
Frequency
Sample Size771
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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