A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11884438



Internal ID1886254
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:43405946..43414235hg38UCSC Ensembl
Innerchr5:43405987..43414195hg38UCSC Ensembl
Outerchr5:43405906..43414276hg38UCSC Ensembl
chr5:43406048..43414337hg19UCSC Ensembl
Innerchr5:43406089..43414297hg19UCSC Ensembl
Outerchr5:43406008..43414378hg19UCSC Ensembl
Cytoband5p12
Allele length
AssemblyAllele length
hg388290
hg198290
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3604901
Supporting Variants
SamplesHG00536
Known GenesCCL28
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11884438
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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