A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3596494



Internal ID6983809
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:69159620..69161835hg38UCSC Ensembl
Innerchr3:69159670..69161785hg38UCSC Ensembl
Outerchr3:69159570..69161885hg38UCSC Ensembl
chr3:69208771..69210986hg19UCSC Ensembl
Innerchr3:69208821..69210936hg19UCSC Ensembl
Outerchr3:69208721..69211036hg19UCSC Ensembl
Cytoband3p14.1
Allele length
AssemblyAllele length
hg382216
hg192216
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv11036135, essv11036142, essv11036143, essv11036145, essv11036144, essv11036140, essv11036141, essv11036146, essv11036133, essv11036134, essv11036137, essv11036138, essv11036139, essv11036136, essv11036147
SamplesNA21110, HG04202, NA20889, NA21122, HG02793, HG03021, NA20859, NA20856, HG04189, HG03953, NA21143, HG03598, HG03833, NA21102, NA21091
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3596494
Frequency
Sample Size2504
Observed Gain0
Observed Loss15
Observed Complex0
Frequencyn/a


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