A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3613924



Internal ID7000819
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:83176768..83191791hg38UCSC Ensembl
chr7:82806084..82821107hg19UCSC Ensembl
Cytoband7q21.11
Allele length
AssemblyAllele length
hg3815024
hg1915024
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv12871199
SamplesHG02089
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3613924
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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