A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3340226



Internal ID15187213
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:102726487..102726504hg38UCSC Ensembl
Innerchr4:102726458..102726533hg38UCSC Ensembl
Outerchr4:102726441..102726550hg38UCSC Ensembl
chr4:103647644..103647661hg19UCSC Ensembl
Innerchr4:103647615..103647690hg19UCSC Ensembl
Outerchr4:103647598..103647707hg19UCSC Ensembl
chr4:103866688..103866705hg18UCSC Ensembl
Innerchr4:103866734..103866659hg18UCSC Ensembl
Outerchr4:103866642..103866751hg18UCSC Ensembl
Cytoband4q24
Allele length
AssemblyAllele length
hg3852
hg1952
hg1852
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7864356
SamplesNA12005
Known GenesMANBA
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3340226
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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