A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12875156



Internal ID4552135
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:84485015..84537879hg38UCSC Ensembl
Innerchr7:84485015..84537879hg38UCSC Ensembl
Outerchr7:84484515..84538379hg38UCSC Ensembl
chr7:84114331..84167195hg19UCSC Ensembl
Innerchr7:84114331..84167195hg19UCSC Ensembl
Outerchr7:84113831..84167695hg19UCSC Ensembl
Cytoband7q21.11
Allele length
AssemblyAllele length
hg3852865
hg1952865
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3613965
Supporting Variants
SamplesHG04054
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12875156
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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