A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3646039



Internal ID7032784
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:49999013..50010268hg38UCSC Ensembl
Innerchr20:49999033..50010248hg38UCSC Ensembl
Outerchr20:49998993..50010288hg38UCSC Ensembl
chr20:48615550..48626805hg19UCSC Ensembl
Innerchr20:48615570..48626785hg19UCSC Ensembl
Outerchr20:48615530..48626825hg19UCSC Ensembl
Cytoband20q13.13
Allele length
AssemblyAllele length
hg3811256
hg1911256
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv16198988
SamplesHG03945
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3646039
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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