A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3646124



Internal ID7032869
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:53712873..53717132hg38UCSC Ensembl
Innerchr20:53712913..53717093hg38UCSC Ensembl
Outerchr20:53712834..53717172hg38UCSC Ensembl
chr20:52329412..52333671hg19UCSC Ensembl
Innerchr20:52329452..52333632hg19UCSC Ensembl
Outerchr20:52329373..52333711hg19UCSC Ensembl
Cytoband20q13.2
Allele length
AssemblyAllele length
hg384260
hg194260
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv16204961
SamplesHG00650
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3646124
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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