A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16215930



Internal ID6217746
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:56431805..56436322hg38UCSC Ensembl
Innerchr20:56431848..56436280hg38UCSC Ensembl
Outerchr20:56431763..56436365hg38UCSC Ensembl
chr20:55006861..55011378hg19UCSC Ensembl
Innerchr20:55006904..55011336hg19UCSC Ensembl
Outerchr20:55006819..55011421hg19UCSC Ensembl
Cytoband20q13.31
Allele length
AssemblyAllele length
hg384518
hg194518
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3646191
Supporting Variants
SamplesHG03779
Known GenesCASS4
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv16215930
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