A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11023314



Internal ID2828259
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:59037102..59066810hg38UCSC Ensembl
Innerchr3:59037129..59066783hg38UCSC Ensembl
Outerchr3:59037075..59066837hg38UCSC Ensembl
chr3:59022828..59052536hg19UCSC Ensembl
Innerchr3:59022855..59052509hg19UCSC Ensembl
Outerchr3:59022801..59052563hg19UCSC Ensembl
Cytoband3p14.2
Allele length
AssemblyAllele length
hg3829709
hg1929709
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3596262
Supporting Variants
SamplesHG02494
Known GenesC3orf67
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11023314
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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