A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3645834



Internal ID6685895
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 State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv16186697, essv16186696, essv16186698, essv16186699, essv16186700
SamplesHG01500, HG01550, NA12156, NA12546, HG00143
Known GenesZHX3
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3645834
Frequency
Sample Size2504
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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