A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3646014



Internal ID6686073
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:49432103..49436422hg38UCSC Ensembl
Innerchr20:49432112..49436414hg38UCSC Ensembl
Outerchr20:49432095..49436431hg38UCSC Ensembl
chr20:48048640..48052959hg19UCSC Ensembl
Innerchr20:48048649..48052951hg19UCSC Ensembl
Outerchr20:48048632..48052968hg19UCSC Ensembl
Cytoband20q13.13
Allele length
AssemblyAllele length
hg384320
hg194320
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv16198887, essv16198886, essv16198885, essv16198884
SamplesNA19404, NA19310, NA19380, NA19393
Known GenesKCNB1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3646014
Frequency
Sample Size2504
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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