A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3612272



Internal ID6999173
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:12951585..12968932hg38UCSC Ensembl
Innerchr7:12951585..12968932hg38UCSC Ensembl
Outerchr7:12951085..12969432hg38UCSC Ensembl
chr7:12991210..13008557hg19UCSC Ensembl
Innerchr7:12991210..13008557hg19UCSC Ensembl
Outerchr7:12990710..13009057hg19UCSC Ensembl
Cytoband7p21.3
Allele length
AssemblyAllele length
hg3817348
hg1917348
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv12683974
SamplesHG04140
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3612272
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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