A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3600612



Internal ID6987654
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:57935494..57941067hg38UCSC Ensembl
Innerchr4:57935494..57941067hg38UCSC Ensembl
Outerchr4:57934994..57941567hg38UCSC Ensembl
chr4:58801660..58807233hg19UCSC Ensembl
Innerchr4:58801660..58807233hg19UCSC Ensembl
Outerchr4:58801160..58807733hg19UCSC Ensembl
Cytoband4q12
Allele length
AssemblyAllele length
hg385574
hg195574
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv11443842
SamplesHG00350
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3600612
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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