A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11521231



Internal ID1523048
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:83448066..83468701hg38UCSC Ensembl
Innerchr4:83448066..83468701hg38UCSC Ensembl
Outerchr4:83447566..83469201hg38UCSC Ensembl
chr4:84369219..84389854hg19UCSC Ensembl
Innerchr4:84369219..84389854hg19UCSC Ensembl
Outerchr4:84368719..84390354hg19UCSC Ensembl
Cytoband4q21.23
Allele length
AssemblyAllele length
hg3820636
hg1920636
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3601197
Supporting Variants
SamplesHG02675
Known GenesFAM175A, HELQ, MRPS18C
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11521231
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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