A curated catalogue of human genomic structural variation




Variant Details

Variant: essv3587069



Internal ID7058451
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:147314354..147315244hg38UCSC Ensembl
Innerchr7:147011446..147012336hg19UCSC Ensembl
Innerchr7:146642379..146643269hg18UCSC Ensembl
Cytoband7q35
Allele length
AssemblyAllele length
hg38891
hg19891
hg18891
Variant TypeCNV loss
Copy Number
Allele State
Allele OriginNot tested
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1001897
Supporting Variants
SamplesHuRef
Known GenesCNTNAP2, MIR548I4
MethodOligo aCGH
Analysis
PlatformNot Submitted
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)essv3587069
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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