A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16186700



Internal ID6188516
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:41253847..41258073hg38UCSC Ensembl
Innerchr20:41253848..41258072hg38UCSC Ensembl
Outerchr20:41253846..41258074hg38UCSC Ensembl
chr20:39882487..39886713hg19UCSC Ensembl
Innerchr20:39882488..39886712hg19UCSC Ensembl
Outerchr20:39882486..39886714hg19UCSC Ensembl
Cytoband20q12
Allele length
AssemblyAllele length
hg384227
hg194227
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3645834
Supporting Variants
SamplesNA12546
Known GenesZHX3
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv16186700
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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