A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3600919



Internal ID6987958
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:69621467..69651053hg38UCSC Ensembl
Innerchr4:69621517..69651003hg38UCSC Ensembl
Outerchr4:69621338..69651182hg38UCSC Ensembl
chr4:70487185..70516771hg19UCSC Ensembl
Innerchr4:70487235..70516721hg19UCSC Ensembl
Outerchr4:70487056..70516900hg19UCSC Ensembl
Cytoband4q13.2
Allele length
AssemblyAllele length
hg3829587
hg1929587
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv11493278, essv11493283, essv11493281, essv11493280, essv11493279, essv11493282, essv11493284
SamplesHG03910, NA21118, HG03692, NA21094, NA21090, HG04171, HG04153
Known GenesUGT2A1, UGT2A2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3600919
Frequency
Sample Size2504
Observed Gain0
Observed Loss7
Observed Complex0
Frequencyn/a


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