A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11403309



Internal ID1405125
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:40074912..40078384hg38UCSC Ensembl
Innerchr4:40074921..40078375hg38UCSC Ensembl
Outerchr4:40074903..40078393hg38UCSC Ensembl
chr4:40076532..40080004hg19UCSC Ensembl
Innerchr4:40076541..40079995hg19UCSC Ensembl
Outerchr4:40076523..40080013hg19UCSC Ensembl
Cytoband4p14
Allele length
AssemblyAllele length
hg383473
hg193473
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3600300
Supporting Variants
SamplesNA07037
Known GenesN4BP2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11403309
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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