A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12870049



Internal ID5181909
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:82772683..82776282hg38UCSC Ensembl
Innerchr7:82772683..82776282hg38UCSC Ensembl
Outerchr7:82772494..82776474hg38UCSC Ensembl
chr7:82401999..82405598hg19UCSC Ensembl
Innerchr7:82401999..82405598hg19UCSC Ensembl
Outerchr7:82401810..82405790hg19UCSC Ensembl
Cytoband7q21.11
Allele length
AssemblyAllele length
hg383600
hg193600
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3613915
Supporting Variants
SamplesNA18606
Known GenesPCLO
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12870049
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer