A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16144138



Internal ID2915079
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:14116023..14167676hg38UCSC Ensembl
Innerchr20:14116523..14167176hg38UCSC Ensembl
Outerchr20:14115023..14168676hg38UCSC Ensembl
chr20:14096669..14148322hg19UCSC Ensembl
Innerchr20:14097169..14147822hg19UCSC Ensembl
Outerchr20:14095669..14149322hg19UCSC Ensembl
Cytoband20p12.1
Allele length
AssemblyAllele length
hg3851654
hg1951654
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3645299
Supporting Variants
SamplesHG02582
Known GenesMACROD2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv16144138
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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