A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11218904



Internal ID6472210
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:167395421..167399078hg38UCSC Ensembl
Innerchr3:167395421..167399078hg38UCSC Ensembl
Outerchr3:167395078..167399412hg38UCSC Ensembl
chr3:167113209..167116866hg19UCSC Ensembl
Innerchr3:167113209..167116866hg19UCSC Ensembl
Outerchr3:167112866..167117200hg19UCSC Ensembl
Cytoband3q26.1
Allele length
AssemblyAllele length
hg383658
hg193658
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3598563
Supporting Variants
SamplesNA20520
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11218904
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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