A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3613677



Internal ID6653886
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:72862152..72949997hg38UCSC Ensembl
chr7:72332716..72420536hg19UCSC Ensembl
Cytoband7q11.23
Allele length
AssemblyAllele length
hg3887846
hg1987821
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv12840957
SamplesHG01247
Known GenesNSUN5P2, POM121, SPDYE7P
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3613677
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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