A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12878548



Internal ID960310
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:86174629..86234016hg38UCSC Ensembl
Innerchr7:86174667..86233979hg38UCSC Ensembl
Outerchr7:86174592..86234054hg38UCSC Ensembl
chr7:85803945..85863332hg19UCSC Ensembl
Innerchr7:85803983..85863295hg19UCSC Ensembl
Outerchr7:85803908..85863370hg19UCSC Ensembl
Cytoband7q21.11
Allele length
AssemblyAllele length
hg3859388
hg1959388
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3614013
Supporting Variants
SamplesHG00592
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12878548
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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