A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3613640



Internal ID6653849
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:71778998..71802508hg38UCSC Ensembl
chr7:71243983..71267493hg19UCSC Ensembl
Cytoband7q11.22
Allele length
AssemblyAllele length
hg3823511
hg1923511
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv12834333, essv12834332
SamplesHG02489, NA12760
Known GenesCALN1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3613640
Frequency
Sample Size2504
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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