A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8694374



Internal ID15012045
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:26650832..26654530hg38UCSC Ensembl
Innerchr4:26651832..26653530hg38UCSC Ensembl
Outerchr4:26649832..26655530hg38UCSC Ensembl
chr4:26652454..26656152hg19UCSC Ensembl
Innerchr4:26653454..26655152hg19UCSC Ensembl
Outerchr4:26651454..26657152hg19UCSC Ensembl
chr4:26261552..26265250hg18UCSC Ensembl
Innerchr4:26262552..26264250hg18UCSC Ensembl
Outerchr4:26260552..26266250hg18UCSC Ensembl
Cytoband4p15.2
Allele length
AssemblyAllele length
hg383699
hg193699
hg183699
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3431385
Supporting Variants
SamplesNA19238
Known GenesTBC1D19
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8694374
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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