A curated catalogue of human genomic structural variation




Variant Details

Variant: esv999216



Internal ID6735141
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:147310409..147311597hg38UCSC Ensembl
Innerchr7:147007501..147008689hg19UCSC Ensembl
Innerchr7:146638434..146639622hg18UCSC Ensembl
Cytoband7q35
Allele length
AssemblyAllele length
hg381189
hg191189
hg181189
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3586806
SamplesHuRef
Known GenesCNTNAP2, MIR548I4
MethodOligo aCGH
Analysis
PlatformNot Submitted
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv999216
Frequency
Sample Size3
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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