A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11854953



Internal ID1856769
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:31884845..31886103hg38UCSC Ensembl
Innerchr5:31884851..31886098hg38UCSC Ensembl
Outerchr5:31884840..31886109hg38UCSC Ensembl
chr5:31884951..31886209hg19UCSC Ensembl
Innerchr5:31884957..31886204hg19UCSC Ensembl
Outerchr5:31884946..31886215hg19UCSC Ensembl
Cytoband5p13.3
Allele length
AssemblyAllele length
hg381259
hg191259
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3604590
Supporting Variants
SamplesHG03872
Known GenesPDZD2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11854953
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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