A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12060972



Internal ID5958903
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:128441029..128442606hg38UCSC Ensembl
Innerchr5:128441029..128442606hg38UCSC Ensembl
Outerchr5:128440911..128442710hg38UCSC Ensembl
chr5:127776722..127778299hg19UCSC Ensembl
Innerchr5:127776722..127778299hg19UCSC Ensembl
Outerchr5:127776604..127778403hg19UCSC Ensembl
Cytoband5q23.3
Allele length
AssemblyAllele length
hg381578
hg191578
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3606725
Supporting Variants
SamplesNA19376
Known GenesFBN2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12060972
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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