A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16198883



Internal ID6200699
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 StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3646013
Supporting Variants
SamplesHG03736
Known GenesKCNB1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv16198883
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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