A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3605173



Internal ID6992201
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 State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv11921626
SamplesNA18868
Known GenesPDE4D
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3605173
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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