A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3601583



Internal ID6988620
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:100781209..100782615hg38UCSC Ensembl
Innerchr4:100781237..100782588hg38UCSC Ensembl
Outerchr4:100781182..100782643hg38UCSC Ensembl
chr4:101702366..101703772hg19UCSC Ensembl
Innerchr4:101702394..101703745hg19UCSC Ensembl
Outerchr4:101702339..101703800hg19UCSC Ensembl
Cytoband4q24
Allele length
AssemblyAllele length
hg381407
hg191407
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv11543899, essv11543898
SamplesNA19222, NA18917
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3601583
Frequency
Sample Size2504
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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