A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3644411



Internal ID7031166
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:42788425..43286626hg38UCSC Ensembl
Innerchr19:42788925..43286126hg38UCSC Ensembl
Outerchr19:42787425..43287626hg38UCSC Ensembl
chr19:43292577..43790778hg19UCSC Ensembl
Innerchr19:43293077..43790278hg19UCSC Ensembl
Outerchr19:43291577..43791778hg19UCSC Ensembl
Cytoband19q13.2
Allele length
AssemblyAllele length
hg38498202
hg19498202
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv16056644, essv16056637, essv16056641, essv16056645, essv16056632, essv16056636, essv16056646, essv16056649, essv16056640, essv16056634, essv16056638, essv16056648, essv16056647, essv16056650, essv16056633, essv16056635, essv16056643, essv16056639, essv16056642
SamplesHG00114, NA20517, HG01350, NA18982, HG03673, NA18874, NA20775, HG04075, HG02479, HG03709, HG03547, HG02554, HG02429, HG02649, HG01936, NA21113, NA18950, HG01620, HG03973
Known GenesLOC100289650, LOC284344, PSG1, PSG10P, PSG11, PSG2, PSG4, PSG5, PSG6, PSG7, PSG9
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3644411
Frequency
Sample Size2504
Observed Gain0
Observed Loss19
Observed Complex0
Frequencyn/a


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