A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7864356



Internal ID13316808
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 StatusS
Merged Variantsesv3340226
Supporting Variants
SamplesNA12005
Known GenesMANBA
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv7864356
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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