A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11094679



Internal ID3453199
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:107113829..107115456hg38UCSC Ensembl
Innerchr3:107113831..107115455hg38UCSC Ensembl
Outerchr3:107113828..107115458hg38UCSC Ensembl
chr3:106832676..106834303hg19UCSC Ensembl
Innerchr3:106832678..106834302hg19UCSC Ensembl
Outerchr3:106832675..106834305hg19UCSC Ensembl
Cytoband3q13.12
Allele length
AssemblyAllele length
hg381628
hg191628
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3597300
Supporting Variants
SamplesHG03079
Known GenesLINC00882
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11094679
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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