A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11854952



Internal ID1856768
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:31832155..31833546hg38UCSC Ensembl
Innerchr5:31832156..31833545hg38UCSC Ensembl
Outerchr5:31832154..31833547hg38UCSC Ensembl
chr5:31832262..31833653hg19UCSC Ensembl
Innerchr5:31832263..31833652hg19UCSC Ensembl
Outerchr5:31832261..31833654hg19UCSC Ensembl
Cytoband5p13.3
Allele length
AssemblyAllele length
hg381392
hg191392
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3604589
Supporting Variants
SamplesHG02355
Known GenesPDZD2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11854952
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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