A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3646285



Internal ID7033030
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:62184154..62185202hg38UCSC Ensembl
Innerchr20:62184211..62185146hg38UCSC Ensembl
Outerchr20:62184098..62185259hg38UCSC Ensembl
chr20:60759210..60760258hg19UCSC Ensembl
Innerchr20:60759267..60760202hg19UCSC Ensembl
Outerchr20:60759154..60760315hg19UCSC Ensembl
Cytoband20q13.33
Allele length
AssemblyAllele length
hg381049
hg191049
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv16221001
SamplesHG00542
Known GenesMTG2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3646285
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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