A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3614384



Internal ID7001278
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:103918960..104053132hg38UCSC Ensembl
chr7:103559407..103693579hg19UCSC Ensembl
Cytoband7q22.1
Allele length
AssemblyAllele length
hg38134173
hg19134173
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv12913145
SamplesNA18933
Known GenesRELN
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3614384
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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