A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1005642



Internal ID7070737
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 Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv177e180
Supporting Variantsessv3586472
SamplesHuRef
Known GenesCNTNAP2, MIR548I4
MethodOligo aCGH
Analysis
PlatformNot Submitted
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv1005642
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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