A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3644183



Internal ID6684251
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:33160915..33161752hg38UCSC Ensembl
Innerchr19:33160915..33161752hg38UCSC Ensembl
Outerchr19:33160558..33162136hg38UCSC Ensembl
chr19:33651821..33652658hg19UCSC Ensembl
Innerchr19:33651821..33652658hg19UCSC Ensembl
Outerchr19:33651464..33653042hg19UCSC Ensembl
Cytoband19q13.11
Allele length
AssemblyAllele length
hg38838
hg19838
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv16041374, essv16041351, essv16041376, essv16041355, essv16041352, essv16041365, essv16041369, essv16041377, essv16041359, essv16041356, essv16041357, essv16041348, essv16041373, essv16041375, essv16041364, essv16041366, essv16041378, essv16041358, essv16041363, essv16041368, essv16041347, essv16041354, essv16041367, essv16041362, essv16041371, essv16041370, essv16041353, essv16041349, essv16041372, essv16041346, essv16041361, essv16041360, essv16041350
SamplesHG00592, NA19055, HG01853, NA18964, NA18611, NA18966, NA18640, HG02409, NA18648, NA18747, HG01857, HG01864, HG00653, HG02084, HG01029, NA18566, HG01842, NA18536, NA18570, NA19003, HG01812, HG00476, HG00473, HG00672, HG00614, HG00409, HG02032, HG02113, NA19080, HG00595, HG00759, HG01869, HG00593
Known GenesWDR88
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3644183
Frequency
Sample Size2504
Observed Gain0
Observed Loss33
Observed Complex0
Frequencyn/a


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