A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12683973



Internal ID6846522
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:12889746..12951411hg38UCSC Ensembl
Innerchr7:12889790..12951367hg38UCSC Ensembl
Outerchr7:12889702..12951455hg38UCSC Ensembl
chr7:12929371..12991036hg19UCSC Ensembl
Innerchr7:12929415..12990992hg19UCSC Ensembl
Outerchr7:12929327..12991080hg19UCSC Ensembl
Cytoband7p21.3
Allele length
AssemblyAllele length
hg3861666
hg1961666
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3612271
Supporting Variants
SamplesNA20911
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12683973
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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