A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3606314



Internal ID6993250
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:113331137..113336625hg38UCSC Ensembl
Innerchr5:113331138..113336625hg38UCSC Ensembl
Outerchr5:113331137..113336626hg38UCSC Ensembl
chr5:112666834..112672322hg19UCSC Ensembl
Innerchr5:112666835..112672322hg19UCSC Ensembl
Outerchr5:112666834..112672323hg19UCSC Ensembl
Cytoband5q22.2
Allele length
AssemblyAllele length
hg385489
hg195489
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv12023501, essv12023482, essv12023467, essv12023492, essv12023518, essv12023493, essv12023475, essv12023520, essv12023502, essv12023497, essv12023514, essv12023498, essv12023469, essv12023463, essv12023485, essv12023503, essv12023510, essv12023464, essv12023477, essv12023512, essv12023478, essv12023487, essv12023490, essv12023470, essv12023473, essv12023484, essv12023481, essv12023499, essv12023511, essv12023516, essv12023509, essv12023500, essv12023476, essv12023472, essv12023479, essv12023496, essv12023466, essv12023515, essv12023494, essv12023488, essv12023507, essv12023483, essv12023474, essv12023521, essv12023495, essv12023468, essv12023465, essv12023517, essv12023491, essv12023508, essv12023489, essv12023471, essv12023506, essv12023504, essv12023505, essv12023513, essv12023480, essv12023486, essv12023519
SamplesHG03514, HG01485, NA19332, HG02433, HG03057, NA18877, HG02870, HG03521, HG02476, NA20298, HG03455, HG03100, HG03297, NA18870, NA20356, HG02922, NA19130, HG03045, NA19172, HG01950, NA20412, HG03380, NA20355, NA19921, HG01183, HG03120, HG03054, HG01384, NA18933, NA19184, NA18516, NA18910, HG01323, HG00551, HG01889, NA19118, HG03136, HG03476, HG02881, HG03391, HG01896, HG03567, HG02255, NA19108, NA19149, HG02308, HG01958, NA19380, HG02317, NA19223, HG01783, HG03063, HG02679, HG01914, NA19146, HG03118, HG03166, HG03271, HG03196
Known GenesMCC
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3606314
Frequency
Sample Size2504
Observed Gain0
Observed Loss59
Observed Complex0
Frequencyn/a


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