A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11580358



Internal ID4728311
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:118322644..118326020hg38UCSC Ensembl
Innerchr4:118322694..118325970hg38UCSC Ensembl
Outerchr4:118322529..118326135hg38UCSC Ensembl
chr4:119243799..119247175hg19UCSC Ensembl
Innerchr4:119243849..119247125hg19UCSC Ensembl
Outerchr4:119243684..119247290hg19UCSC Ensembl
Cytoband4q26
Allele length
AssemblyAllele length
hg383377
hg193377
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3601943
Supporting Variants
SamplesNA06986
Known GenesPRSS12
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11580358
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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