A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12693241



Internal ID4067104
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:20546739..20551366hg38UCSC Ensembl
Innerchr7:20546739..20551366hg38UCSC Ensembl
Outerchr7:20546638..20551369hg38UCSC Ensembl
chr7:20586362..20590989hg19UCSC Ensembl
Innerchr7:20586362..20590989hg19UCSC Ensembl
Outerchr7:20586261..20590992hg19UCSC Ensembl
Cytoband7p21.1
Allele length
AssemblyAllele length
hg384628
hg194628
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3612492
Supporting Variants
SamplesHG03702
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12693241
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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