A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16199549



Internal ID659047
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:51671320..51674174hg38UCSC Ensembl
Innerchr20:51671320..51674174hg38UCSC Ensembl
Outerchr20:51671220..51674280hg38UCSC Ensembl
chr20:50287859..50290713hg19UCSC Ensembl
Innerchr20:50287859..50290713hg19UCSC Ensembl
Outerchr20:50287759..50290819hg19UCSC Ensembl
Cytoband20q13.2
Allele length
AssemblyAllele length
hg382855
hg192855
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3646065
Supporting Variants
SamplesHG00306
Known GenesATP9A
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv16199549
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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