A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12998493



Internal ID2172827
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:147614321..147616592hg38UCSC Ensembl
Innerchr7:147614332..147616582hg38UCSC Ensembl
Outerchr7:147614311..147616603hg38UCSC Ensembl
chr7:147311413..147313684hg19UCSC Ensembl
Innerchr7:147311424..147313674hg19UCSC Ensembl
Outerchr7:147311403..147313695hg19UCSC Ensembl
Cytoband7q35
Allele length
AssemblyAllele length
hg382272
hg192272
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3615398
Supporting Variants
SamplesHG01965
Known GenesCNTNAP2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12998493
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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