A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3646013



Internal ID6686072
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:49415980..49417188hg38UCSC Ensembl
Innerchr20:49415997..49417171hg38UCSC Ensembl
Outerchr20:49415963..49417205hg38UCSC Ensembl
chr20:48032517..48033725hg19UCSC Ensembl
Innerchr20:48032534..48033708hg19UCSC Ensembl
Outerchr20:48032500..48033742hg19UCSC Ensembl
Cytoband20q13.13
Allele length
AssemblyAllele length
hg381209
hg191209
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv16198883
SamplesHG03736
Known GenesKCNB1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3646013
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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