A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3646021



Internal ID7032766
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:49695846..49707154hg38UCSC Ensembl
chr20:48312383..48323691hg19UCSC Ensembl
Cytoband20q13.13
Allele length
AssemblyAllele length
hg3811309
hg1911309
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv16198895, essv16198896
SamplesHG00637, HG01197
Known GenesB4GALT5
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3646021
Frequency
Sample Size2504
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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