A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12668865



Internal ID5660353
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:2860242..2862673hg38UCSC Ensembl
Innerchr7:2860283..2862633hg38UCSC Ensembl
Outerchr7:2860202..2862714hg38UCSC Ensembl
chr7:2899876..2902307hg19UCSC Ensembl
Innerchr7:2899917..2902267hg19UCSC Ensembl
Outerchr7:2899836..2902348hg19UCSC Ensembl
Cytoband7p22.2
Allele length
AssemblyAllele length
hg382432
hg192432
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3611855
Supporting Variants
SamplesNA19072
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12668865
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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