A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3600319



Internal ID6987363
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:40838941..40841672hg38UCSC Ensembl
Innerchr4:40838944..40841669hg38UCSC Ensembl
Outerchr4:40838938..40841675hg38UCSC Ensembl
chr4:40840958..40843689hg19UCSC Ensembl
Innerchr4:40840961..40843686hg19UCSC Ensembl
Outerchr4:40840955..40843692hg19UCSC Ensembl
Cytoband4p14
Allele length
AssemblyAllele length
hg382732
hg192732
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv11405203, essv11405204
SamplesHG03267, HG03060
Known GenesAPBB2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3600319
Frequency
Sample Size2504
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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