A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3603729



Internal ID6643983
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:74519..76683hg38UCSC Ensembl
Innerchr5:74519..76683hg38UCSC Ensembl
Outerchr5:74301..76951hg38UCSC Ensembl
chr5:74634..76798hg19UCSC Ensembl
Innerchr5:74634..76798hg19UCSC Ensembl
Outerchr5:74416..77066hg19UCSC Ensembl
Cytoband5p15.33
Allele length
AssemblyAllele length
hg382165
hg192165
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv11765184, essv11765187, essv11765186, essv11765188, essv11765185, essv11765183, essv11765190, essv11765189
SamplesNA18502, HG02481, NA19914, HG03074, HG03225, HG01990, HG03461, NA19467
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3603729
Frequency
Sample Size2504
Observed Gain0
Observed Loss8
Observed Complex0
Frequencyn/a


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