A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5161347



Internal ID8252928
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:62506780..63239999hg38UCSC Ensembl
Innerchr7:61887817..62700377hg19UCSC Ensembl
Innerchr7:61525252..62337812hg18UCSC Ensembl
Innerchr7:61331967..62144527hg17UCSC Ensembl
Cytoband7q11.21
Allele length
AssemblyAllele length
hg38733220
hg19812561
hg18812561
hg17812561
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2422387
Supporting Variants
SamplesND04991
Known Genes
MethodSNP array
Analysislog R ratio and B allele frequency.
PlatformNot specified
Comments
ReferenceSimon-Sanchez_et_al_2007
Pubmed ID17116639
Accession Number(s)essv5161347
Frequency
Sample Size181
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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