A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3275718



Internal ID10948698
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:147314407..147315505hg38UCSC Ensembl
Outerchr7:147011499..147012597hg19UCSC Ensembl
Cytoband7q35
Allele length
AssemblyAllele length
hg381099
hg191099
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7545285
SamplesHuRef
Known GenesCNTNAP2, MIR548I4
MethodSequencing
Analysis
PlatformComplete Genomics
Comments
ReferencePang_et_al_2013b
Pubmed ID24192839
Accession Number(s)esv3275718
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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