A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11111212



Internal ID6642526
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:116167922..116183149hg38UCSC Ensembl
Innerchr3:116167966..116183106hg38UCSC Ensembl
Outerchr3:116167879..116183193hg38UCSC Ensembl
chr3:115886769..115901996hg19UCSC Ensembl
Innerchr3:115886813..115901953hg19UCSC Ensembl
Outerchr3:115886726..115902040hg19UCSC Ensembl
Cytoband3q13.31
Allele length
AssemblyAllele length
hg3815228
hg1915228
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3597487
Supporting Variants
SamplesNA20799
Known GenesLSAMP
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11111212
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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