A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3601197



Internal ID6641454
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 State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv11521231
SamplesHG02675
Known GenesFAM175A, HELQ, MRPS18C
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3601197
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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