A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3645768



Internal ID6685829
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:37846081..37848916hg38UCSC Ensembl
Innerchr20:37846081..37848916hg38UCSC Ensembl
Outerchr20:37845884..37849256hg38UCSC Ensembl
chr20:36474483..36477318hg19UCSC Ensembl
Innerchr20:36474483..36477318hg19UCSC Ensembl
Outerchr20:36474286..36477658hg19UCSC Ensembl
Cytoband20q11.23
Allele length
AssemblyAllele length
hg382836
hg192836
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv16180388, essv16180384, essv16180382, essv16180383, essv16180387, essv16180381, essv16180380, essv16180386, essv16180391, essv16180385, essv16180390, essv16180389
SamplesNA19214, HG03351, HG03057, NA19360, NA19153, NA20126, HG03518, HG03385, HG03198, HG03123, NA19399, HG03369
Known GenesCTNNBL1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3645768
Frequency
Sample Size2504
Observed Gain0
Observed Loss12
Observed Complex0
Frequencyn/a


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