A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12998063



Internal ID1842380
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 StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3615389
Supporting Variants
SamplesHG01708
Known GenesCNTNAP2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12998063
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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