A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16232517



Internal ID6234333
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:63914704..63918693hg38UCSC Ensembl
Innerchr20:63914771..63918626hg38UCSC Ensembl
Outerchr20:63914637..63918760hg38UCSC Ensembl
chr20:62546057..62550046hg19UCSC Ensembl
Innerchr20:62546124..62549979hg19UCSC Ensembl
Outerchr20:62545990..62550113hg19UCSC Ensembl
Cytoband20q13.33
Allele length
AssemblyAllele length
hg383990
hg193990
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3646330
Supporting Variants
SamplesHG02737
Known GenesDNAJC5
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv16232517
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer