A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12672132



Internal ID2673948
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:6083376..6088614hg38UCSC Ensembl
Innerchr7:6083376..6088614hg38UCSC Ensembl
Outerchr7:6082876..6089114hg38UCSC Ensembl
chr7:6123007..6128245hg19UCSC Ensembl
Innerchr7:6123007..6128245hg19UCSC Ensembl
Outerchr7:6122507..6128745hg19UCSC Ensembl
Cytoband7p22.1
Allele length
AssemblyAllele length
hg385239
hg195239
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3612014
Supporting Variants
SamplesHG02808
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12672132
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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