A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1003793



Internal ID6715920
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:147324002..147324539hg38UCSC Ensembl
Innerchr7:147021094..147021631hg19UCSC Ensembl
Innerchr7:146652027..146652564hg18UCSC Ensembl
Cytoband7q35
Allele length
AssemblyAllele length
hg38538
hg19538
hg18538
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3587079
SamplesHuRef
Known GenesCNTNAP2, MIR548I4
MethodOligo aCGH
Analysis
PlatformNot Submitted
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv1003793
Frequency
Sample Size3
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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