A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16193804



Internal ID2347339
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:44445995..44448936hg38UCSC Ensembl
Innerchr20:44446002..44448929hg38UCSC Ensembl
Outerchr20:44445988..44448943hg38UCSC Ensembl
chr20:43074635..43077576hg19UCSC Ensembl
Innerchr20:43074642..43077569hg19UCSC Ensembl
Outerchr20:43074628..43077583hg19UCSC Ensembl
Cytoband20q13.12
Allele length
AssemblyAllele length
hg382942
hg192942
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3645910
Supporting Variants
SamplesHG02082
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv16193804
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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