A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3644575



Internal ID6684642
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:48101703..48102424hg38UCSC Ensembl
Innerchr19:48101709..48102419hg38UCSC Ensembl
Outerchr19:48101698..48102430hg38UCSC Ensembl
chr19:48604960..48605681hg19UCSC Ensembl
Innerchr19:48604966..48605676hg19UCSC Ensembl
Outerchr19:48604955..48605687hg19UCSC Ensembl
Cytoband19q13.33
Allele length
AssemblyAllele length
hg38722
hg19722
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv16071421, essv16071434, essv16071420, essv16071426, essv16071436, essv16071430, essv16071432, essv16071390, essv16071396, essv16071413, essv16071417, essv16071409, essv16071391, essv16071438, essv16071405, essv16071433, essv16071400, essv16071435, essv16071407, essv16071416, essv16071422, essv16071418, essv16071428, essv16071394, essv16071408, essv16071429, essv16071392, essv16071398, essv16071427, essv16071442, essv16071402, essv16071412, essv16071410, essv16071395, essv16071397, essv16071441, essv16071406, essv16071404, essv16071401, essv16071393, essv16071437, essv16071411, essv16071423, essv16071424, essv16071439, essv16071431, essv16071403, essv16071399, essv16071425, essv16071419, essv16071415, essv16071414, essv16071440
SamplesHG03762, HG02655, NA21123, HG03874, HG04096, HG02648, HG03611, HG04056, NA20902, HG04002, NA20861, NA20895, HG03714, NA20853, HG04061, HG03897, HG04076, HG04238, NA20896, HG04075, HG03882, NA20908, HG03774, HG03717, HG03844, NA21119, HG02603, HG01465, NA18633, NA20884, HG03649, NA20864, HG03849, HG02651, HG01080, NA21100, HG04162, NA21092, HG01190, HG04022, HG03789, HG04019, HG03989, NA20509, NA21089, HG04039, HG03607, HG02682, HG03814, HG03830, HG03012, HG03885, HG01474
Known GenesPLA2G4C
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3644575
Frequency
Sample Size2504
Observed Gain0
Observed Loss53
Observed Complex0
Frequencyn/a


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