A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11882005



Internal ID1883821
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:41420580..41426581hg38UCSC Ensembl
Innerchr5:41420580..41426581hg38UCSC Ensembl
Outerchr5:41420313..41426821hg38UCSC Ensembl
chr5:41420682..41426683hg19UCSC Ensembl
Innerchr5:41420682..41426683hg19UCSC Ensembl
Outerchr5:41420415..41426923hg19UCSC Ensembl
Cytoband5p13.1
Allele length
AssemblyAllele length
hg386002
hg196002
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3604844
Supporting Variants
SamplesHG00634
Known GenesPLCXD3
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11882005
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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