A curated catalogue of human genomic structural variation




Variant Details

Variant: essv3586472



Internal ID7057854
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:147314430..147315434hg38UCSC Ensembl
Innerchr7:147011522..147012526hg19UCSC Ensembl
Innerchr7:146642455..146643459hg18UCSC Ensembl
Cytoband7q35
Allele length
AssemblyAllele length
hg381005
hg191005
hg181005
Variant TypeCNV loss
Copy Number
Allele State
Allele OriginNot tested
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1005642
Supporting Variants
SamplesHuRef
Known GenesCNTNAP2, MIR548I4
MethodOligo aCGH
Analysis
PlatformNot Submitted
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)essv3586472
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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