A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3615398



Internal ID6655597
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 State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv12998493
SamplesHG01965
Known GenesCNTNAP2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3615398
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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