A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3612076



Internal ID6998978
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:7361109..7367905hg38UCSC Ensembl
Innerchr7:7361109..7367905hg38UCSC Ensembl
Outerchr7:7360983..7368039hg38UCSC Ensembl
chr7:7400740..7407536hg19UCSC Ensembl
Innerchr7:7400740..7407536hg19UCSC Ensembl
Outerchr7:7400614..7407670hg19UCSC Ensembl
Cytoband7p21.3
Allele length
AssemblyAllele length
hg386797
hg196797
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv12674632, essv12674634, essv12674633, essv12674631, essv12674635
SamplesHG02973, NA19099, HG02255, HG04098, HG03401
Known GenesCOL28A1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3612076
Frequency
Sample Size2504
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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