A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3645429



Internal ID7032179
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:17844217..17844708hg38UCSC Ensembl
Innerchr20:17844217..17844708hg38UCSC Ensembl
Outerchr20:17843840..17845020hg38UCSC Ensembl
chr20:17824861..17825352hg19UCSC Ensembl
Innerchr20:17824861..17825352hg19UCSC Ensembl
Outerchr20:17824484..17825664hg19UCSC Ensembl
Cytoband20p12.1
Allele length
AssemblyAllele length
hg38492
hg19492
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv16154200, essv16154178, essv16154202, essv16154228, essv16154187, essv16154180, essv16154174, essv16154193, essv16154196, essv16154179, essv16154176, essv16154218, essv16154171, essv16154181, essv16154199, essv16154183, essv16154188, essv16154186, essv16154208, essv16154222, essv16154207, essv16154215, essv16154190, essv16154226, essv16154192, essv16154213, essv16154189, essv16154164, essv16154167, essv16154165, essv16154220, essv16154163, essv16154197, essv16154182, essv16154206, essv16154230, essv16154210, essv16154198, essv16154223, essv16154169, essv16154168, essv16154219, essv16154205, essv16154203, essv16154217, essv16154211, essv16154184, essv16154209, essv16154166, essv16154173, essv16154175, essv16154225, essv16154231, essv16154194, essv16154204, essv16154195, essv16154185, essv16154212, essv16154172, essv16154177, essv16154221, essv16154191, essv16154229, essv16154170, essv16154214, essv16154201, essv16154227, essv16154216, essv16154224, essv16154232
SamplesNA19394, NA19399, NA19020, HG03115, HG03298, NA18878, HG03297, HG02394, HG02895, HG03478, HG03095, HG03464, HG03436, NA19379, NA18519, HG02621, NA18923, NA18498, HG03040, HG02981, HG03460, HG03556, HG03189, NA19238, HG03195, NA19026, HG03270, HG02009, HG02442, HG02402, HG03511, HG02108, HG02322, NA18516, HG01796, HG03085, NA19042, HG03388, HG03078, NA18853, HG01956, HG02484, HG02255, NA19206, NA19147, NA18517, NA20276, HG02546, HG02983, HG01915, HG03458, HG03557, HG02771, NA19376, HG03039, HG01556, NA19351, HG02646, HG02107, HG03063, NA19185, NA18876, NA19030, NA19312, HG02805, HG02629, HG03129, NA19431, HG03196, HG02760
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3645429
Frequency
Sample Size2504
Observed Gain0
Observed Loss70
Observed Complex0
Frequencyn/a


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