A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3644437



Internal ID7031192
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:43003765..43249268hg38UCSC Ensembl
Innerchr19:43004265..43248768hg38UCSC Ensembl
Outerchr19:43002765..43250268hg38UCSC Ensembl
chr19:43507917..43753420hg19UCSC Ensembl
Innerchr19:43508417..43752920hg19UCSC Ensembl
Outerchr19:43506917..43754420hg19UCSC Ensembl
Cytoband19q13.31
Allele length
AssemblyAllele length
hg38245504
hg19245504
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv662e214
Supporting Variantsessv16058769, essv16058764, essv16058775, essv16058746, essv16058774, essv16058745, essv16058757, essv16058740, essv16058754, essv16058743, essv16058732, essv16058730, essv16058739, essv16058737, essv16058776, essv16058729, essv16058777, essv16058742, essv16058753, essv16058734, essv16058768, essv16058763, essv16058770, essv16058767, essv16058758, essv16058735, essv16058766, essv16058765, essv16058738, essv16058759, essv16058752, essv16058755, essv16058736, essv16058751, essv16058733, essv16058749, essv16058762, essv16058747, essv16058741, essv16058772, essv16058760, essv16058773, essv16058744, essv16058761, essv16058756, essv16058748, essv16058771, essv16058750, essv16058731
SamplesHG03163, NA20274, HG03449, NA18999, HG02891, HG03455, NA20517, HG03069, HG03074, HG01350, HG01366, NA20774, NA19916, NA18498, HG01110, HG03209, HG02143, HG02561, HG02315, NA18874, NA20775, HG02573, HG02471, HG03583, HG04075, HG03547, HG01882, HG02554, HG02144, NA18856, HG02649, NA19338, HG01936, NA19625, HG03064, NA21113, HG02667, NA19834, NA18543, NA19256, NA19147, NA20276, HG02941, HG01620, NA18501, HG02052, HG01883, HG02284, NA18522
Known GenesLOC284344, PSG11, PSG2, PSG4, PSG5
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3644437
Frequency
Sample Size2504
Observed Gain0
Observed Loss49
Observed Complex0
Frequencyn/a


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