A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3644997



Internal ID7031748
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:2123073..2125814hg38UCSC Ensembl
Innerchr20:2123073..2125814hg38UCSC Ensembl
Outerchr20:2122934..2125995hg38UCSC Ensembl
chr20:2103719..2106460hg19UCSC Ensembl
Innerchr20:2103719..2106460hg19UCSC Ensembl
Outerchr20:2103580..2106641hg19UCSC Ensembl
Cytoband20p13
Allele length
AssemblyAllele length
hg382742
hg192742
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv16119034
SamplesHG01893
Known GenesSTK35
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3644997
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