A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3613567



Internal ID7000463
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:68086388..68090441hg38UCSC Ensembl
chr7:67551375..67555428hg19UCSC Ensembl
Cytoband7q11.22
Allele length
AssemblyAllele length
hg384054
hg194054
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv12826562, essv12826563, essv12826566, essv12826565, essv12826561, essv12826564
SamplesHG03086, HG02860, HG02737, HG03491, HG01102, HG03864
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3613567
Frequency
Sample Size2504
Observed Gain6
Observed Loss0
Observed Complex0
Frequencyn/a


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