A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16187787



Internal ID4897509
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:41685090..41778498hg38UCSC Ensembl
Innerchr20:41685100..41778488hg38UCSC Ensembl
Outerchr20:41685080..41778508hg38UCSC Ensembl
chr20:40313729..40407138hg19UCSC Ensembl
Innerchr20:40313739..40407128hg19UCSC Ensembl
Outerchr20:40313719..40407148hg19UCSC Ensembl
Cytoband20q12
Allele length
AssemblyAllele length
hg3893409
hg1993410
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3645845
Supporting Variants
SamplesNA12546
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv16187787
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