A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11819280



Internal ID4148239
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:15821620..15824802hg38UCSC Ensembl
Innerchr5:15821658..15824765hg38UCSC Ensembl
Outerchr5:15821583..15824840hg38UCSC Ensembl
chr5:15821729..15824911hg19UCSC Ensembl
Innerchr5:15821767..15824874hg19UCSC Ensembl
Outerchr5:15821692..15824949hg19UCSC Ensembl
Cytoband5p15.1
Allele length
AssemblyAllele length
hg383183
hg193183
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3604117
Supporting Variants
SamplesHG03754
Known GenesFBXL7
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11819280
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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