A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11879622



Internal ID1881438
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:41334757..41337151hg38UCSC Ensembl
Innerchr5:41334785..41337123hg38UCSC Ensembl
Outerchr5:41334729..41337179hg38UCSC Ensembl
chr5:41334859..41337253hg19UCSC Ensembl
Innerchr5:41334887..41337225hg19UCSC Ensembl
Outerchr5:41334831..41337281hg19UCSC Ensembl
Cytoband5p13.1
Allele length
AssemblyAllele length
hg382395
hg192395
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3604841
Supporting Variants
SamplesNA20357
Known GenesPLCXD3
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11879622
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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