A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3645467



Internal ID7032217
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:20031912..20032355hg38UCSC Ensembl
Innerchr20:20031913..20032354hg38UCSC Ensembl
Outerchr20:20031911..20032356hg38UCSC Ensembl
chr20:20012556..20012999hg19UCSC Ensembl
Innerchr20:20012557..20012998hg19UCSC Ensembl
Outerchr20:20012555..20013000hg19UCSC Ensembl
Cytoband20p11.23
Allele length
AssemblyAllele length
hg38444
hg19444
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv16155207, essv16155203, essv16155190, essv16155194, essv16155184, essv16155187, essv16155195, essv16155180, essv16155175, essv16155189, essv16155183, essv16155196, essv16155191, essv16155174, essv16155198, essv16155171, essv16155178, essv16155158, essv16155209, essv16155159, essv16155172, essv16155202, essv16155204, essv16155200, essv16155166, essv16155211, essv16155192, essv16155197, essv16155160, essv16155161, essv16155199, essv16155165, essv16155208, essv16155188, essv16155173, essv16155212, essv16155167, essv16155205, essv16155181, essv16155179, essv16155193, essv16155170, essv16155162, essv16155163, essv16155168, essv16155182, essv16155177, essv16155210, essv16155164, essv16155176, essv16155169, essv16155185, essv16155186, essv16155201, essv16155206
SamplesHG02339, HG01746, NA19141, HG03366, HG02944, HG03548, NA18861, HG03163, NA19378, HG03241, HG03139, HG03577, NA18870, NA19446, NA19792, NA19171, HG02811, HG03385, HG02952, NA19119, NA19131, HG02561, HG03189, HG02315, NA19372, NA19207, NA18864, HG03270, HG03061, HG03547, NA19913, NA19236, HG03428, HG02508, HG02968, HG03027, HG02537, HG01102, HG03085, HG02577, HG02666, HG03354, NA19147, HG02983, NA19380, HG02314, NA19439, HG03419, NA19475, HG03112, HG02013, HG03162, HG02947, NA19463, NA19153
Known GenesNAA20
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3645467
Frequency
Sample Size2504
Observed Gain0
Observed Loss55
Observed Complex0
Frequencyn/a


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