A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12826527



Internal ID6018056
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:67752456..67757970hg38UCSC Ensembl
Innerchr7:67752470..67757956hg38UCSC Ensembl
Outerchr7:67752442..67757984hg38UCSC Ensembl
chr7:67217443..67222957hg19UCSC Ensembl
Innerchr7:67217457..67222943hg19UCSC Ensembl
Outerchr7:67217429..67222971hg19UCSC Ensembl
Cytoband7q11.22
Allele length
AssemblyAllele length
hg385515
hg195515
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3613560
Supporting Variants
SamplesNA19430
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12826527
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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