A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3602283



Internal ID6989317
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:133415339..133448168hg38UCSC Ensembl
Innerchr4:133415839..133447668hg38UCSC Ensembl
Outerchr4:133414339..133449168hg38UCSC Ensembl
chr4:134336494..134369323hg19UCSC Ensembl
Innerchr4:134336994..134368823hg19UCSC Ensembl
Outerchr4:134335494..134370323hg19UCSC Ensembl
Cytoband4q28.3
Allele length
AssemblyAllele length
hg3832830
hg1932830
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv11612196
SamplesHG02493
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3602283
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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