A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3603903



Internal ID6990934
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:5678571..5680794hg38UCSC Ensembl
Innerchr5:5678572..5680793hg38UCSC Ensembl
Outerchr5:5678570..5680795hg38UCSC Ensembl
chr5:5678684..5680907hg19UCSC Ensembl
Innerchr5:5678685..5680906hg19UCSC Ensembl
Outerchr5:5678683..5680908hg19UCSC Ensembl
Cytoband5p15.32
Allele length
AssemblyAllele length
hg382224
hg192224
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv11799798, essv11799788, essv11799790, essv11799797, essv11799799, essv11799791, essv11799793, essv11799785, essv11799796, essv11799800, essv11799786, essv11799792, essv11799789, essv11799794, essv11799787, essv11799795
SamplesHG03052, NA18881, HG03295, HG02595, HG02471, HG02442, NA19750, NA18523, HG02896, HG02613, NA20522, HG02558, NA19472, HG03097, HG03063, HG03077
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3603903
Frequency
Sample Size2504
Observed Gain0
Observed Loss16
Observed Complex0
Frequencyn/a


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