A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3615365



Internal ID6655564
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:146422719..146437160hg38UCSC Ensembl
Innerchr7:146422719..146437160hg38UCSC Ensembl
Outerchr7:146422219..146437660hg38UCSC Ensembl
chr7:146119811..146134252hg19UCSC Ensembl
Innerchr7:146119811..146134252hg19UCSC Ensembl
Outerchr7:146119311..146134752hg19UCSC Ensembl
Cytoband7q35
Allele length
AssemblyAllele length
hg3814442
hg1914442
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv12997644
SamplesNA18629
Known GenesCNTNAP2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3615365
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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