A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3615389



Internal ID7002278
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:146873507..146889691hg38UCSC Ensembl
Innerchr7:146874007..146889191hg38UCSC Ensembl
Outerchr7:146872507..146890691hg38UCSC Ensembl
chr7:146570599..146586783hg19UCSC Ensembl
Innerchr7:146571099..146586283hg19UCSC Ensembl
Outerchr7:146569599..146587783hg19UCSC Ensembl
Cytoband7q35
Allele length
AssemblyAllele length
hg3816185
hg1916185
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1333e214
Supporting Variantsessv12998063, essv12998062
SamplesHG01308, HG01708
Known GenesCNTNAP2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3615389
Frequency
Sample Size2504
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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