A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3602462



Internal ID6989496
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:141297670..141302858hg38UCSC Ensembl
Innerchr4:141297820..141302708hg38UCSC Ensembl
Outerchr4:141297520..141303008hg38UCSC Ensembl
chr4:142218824..142224012hg19UCSC Ensembl
Innerchr4:142218974..142223862hg19UCSC Ensembl
Outerchr4:142218674..142224162hg19UCSC Ensembl
Cytoband4q31.21
Allele length
AssemblyAllele length
hg385189
hg195189
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv11635015, essv11635018, essv11635019, essv11635016, essv11635017, essv11635020
SamplesNA21099, NA21105, NA21118, NA20867, NA20859, NA21142
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3602462
Frequency
Sample Size2504
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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