A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16147373



Internal ID3995545
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:15363370..15409399hg38UCSC Ensembl
Innerchr20:15363392..15409378hg38UCSC Ensembl
Outerchr20:15363349..15409421hg38UCSC Ensembl
chr20:15344016..15390044hg19UCSC Ensembl
Innerchr20:15344038..15390023hg19UCSC Ensembl
Outerchr20:15343995..15390066hg19UCSC Ensembl
Cytoband20p12.1
Allele length
AssemblyAllele length
hg3846030
hg1946029
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3645371
Supporting Variants
SamplesHG03645
Known GenesMACROD2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv16147373
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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