A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11921626



Internal ID5323245
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:59833490..59840145hg38UCSC Ensembl
Innerchr5:59833503..59840132hg38UCSC Ensembl
Outerchr5:59833477..59840158hg38UCSC Ensembl
chr5:59129316..59135971hg19UCSC Ensembl
Innerchr5:59129329..59135958hg19UCSC Ensembl
Outerchr5:59129303..59135984hg19UCSC Ensembl
Cytoband5q12.1
Allele length
AssemblyAllele length
hg386656
hg196656
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3605173
Supporting Variants
SamplesNA18868
Known GenesPDE4D
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11921626
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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