A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3604112



Internal ID6991142
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:15603570..15606567hg38UCSC Ensembl
Innerchr5:15603605..15606532hg38UCSC Ensembl
Outerchr5:15603535..15606602hg38UCSC Ensembl
chr5:15603679..15606676hg19UCSC Ensembl
Innerchr5:15603714..15606641hg19UCSC Ensembl
Outerchr5:15603644..15606711hg19UCSC Ensembl
Cytoband5p15.1
Allele length
AssemblyAllele length
hg382998
hg192998
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv11818612, essv11818614, essv11818611, essv11818613
SamplesNA20774, HG02786, NA12342, NA20544
Known GenesFBXL7
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3604112
Frequency
Sample Size2504
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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