A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3542602



Internal ID18396992
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:147186889..147187076hg38UCSC Ensembl
Outerchr7:147186815..147187121hg38UCSC Ensembl
Innerchr7:146883981..146884168hg19UCSC Ensembl
Outerchr7:146883907..146884213hg19UCSC Ensembl
Cytoband7q35
Allele length
AssemblyAllele length
hg38307
hg19307
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9741349
Samples
Known GenesCNTNAP2
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)esv3542602
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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