A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3603730



Internal ID6990761
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:97635..100967hg38UCSC Ensembl
Innerchr5:97635..100967hg38UCSC Ensembl
Outerchr5:97514..101257hg38UCSC Ensembl
chr5:97750..101082hg19UCSC Ensembl
Innerchr5:97750..101082hg19UCSC Ensembl
Outerchr5:97629..101372hg19UCSC Ensembl
Cytoband5p15.33
Allele length
AssemblyAllele length
hg383333
hg193333
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv11765195, essv11765196, essv11765200, essv11765204, essv11765205, essv11765203, essv11765199, essv11765191, essv11765198, essv11765206, essv11765192, essv11765193, essv11765202, essv11765194, essv11765197, essv11765201
SamplesHG02973, HG02433, HG01326, HG02323, NA19819, HG02769, NA19107, HG01393, NA19207, NA19172, HG02882, HG03270, HG01879, NA18853, HG02611, HG01108
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3603730
Frequency
Sample Size2504
Observed Gain0
Observed Loss16
Observed Complex0
Frequencyn/a


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