A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12672100



Internal ID2673916
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:6074187..6080058hg38UCSC Ensembl
Innerchr7:6074241..6080005hg38UCSC Ensembl
Outerchr7:6074134..6080112hg38UCSC Ensembl
chr7:6113818..6119689hg19UCSC Ensembl
Innerchr7:6113872..6119636hg19UCSC Ensembl
Outerchr7:6113765..6119743hg19UCSC Ensembl
Cytoband7p22.1
Allele length
AssemblyAllele length
hg385872
hg195872
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3612013
Supporting Variants
SamplesHG00110
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12672100
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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