A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3615688



Internal ID6655886
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:157288516..157403484hg38UCSC Ensembl
Innerchr7:157288666..157403334hg38UCSC Ensembl
Outerchr7:157288366..157403634hg38UCSC Ensembl
chr7:157081210..157196178hg19UCSC Ensembl
Innerchr7:157081360..157196028hg19UCSC Ensembl
Outerchr7:157081060..157196328hg19UCSC Ensembl
Cytoband7q36.3
Allele length
AssemblyAllele length
hg38114969
hg19114969
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv13040094
SamplesHG03132
Known GenesDNAJB6
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3615688
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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