A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3603837



Internal ID6990868
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:2712598..2715250hg38UCSC Ensembl
Innerchr5:2712602..2715247hg38UCSC Ensembl
Outerchr5:2712595..2715254hg38UCSC Ensembl
chr5:2712712..2715364hg19UCSC Ensembl
Innerchr5:2712716..2715361hg19UCSC Ensembl
Outerchr5:2712709..2715368hg19UCSC Ensembl
Cytoband5p15.33
Allele length
AssemblyAllele length
hg382653
hg192653
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv11788566, essv11788570, essv11788565, essv11788563, essv11788564, essv11788561, essv11788562, essv11788569, essv11788559, essv11788560, essv11788567, essv11788568, essv11788571
SamplesNA19466, HG03298, NA19374, HG03135, NA19457, NA20287, NA18520, NA19437, NA19462, NA18858, HG00734, NA19223, HG01883
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3603837
Frequency
Sample Size2504
Observed Gain0
Observed Loss13
Observed Complex0
Frequencyn/a


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