A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2752192



Internal ID12985744
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:92903841..93001140hg38UCSC Ensembl
Innerchr7:92533155..92630454hg19UCSC Ensembl
Innerchr7:92371091..92468390hg18UCSC Ensembl
Innerchr7:92177806..92275105hg17UCSC Ensembl
Cytoband7q21.2
Allele length
AssemblyAllele length
hg3897300
hg1997300
hg1897300
hg1797300
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6983182, essv6983181
SamplesBEC_550
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)esv2752192
Frequency
Sample Size771
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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