A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12694172



Internal ID2057919
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:22019381..22020660hg38UCSC Ensembl
Innerchr7:22019381..22020660hg38UCSC Ensembl
Outerchr7:22019078..22020953hg38UCSC Ensembl
chr7:22058999..22060278hg19UCSC Ensembl
Innerchr7:22058999..22060278hg19UCSC Ensembl
Outerchr7:22058696..22060571hg19UCSC Ensembl
Cytoband7p15.3
Allele length
AssemblyAllele length
hg381280
hg191280
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3612510
Supporting Variants
SamplesHG01878
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12694172
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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