A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9615113



Internal ID13606533
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:51995440..51995459hg38UCSC Ensembl
Innerchr4:51995436..51995463hg38UCSC Ensembl
Outerchr4:51995417..51995482hg38UCSC Ensembl
chr4:52861606..52861625hg19UCSC Ensembl
Innerchr4:52861602..52861629hg19UCSC Ensembl
Outerchr4:52861583..52861648hg19UCSC Ensembl
chr4:52556363..52556382hg18UCSC Ensembl
Innerchr4:52556386..52556359hg18UCSC Ensembl
Outerchr4:52556340..52556405hg18UCSC Ensembl
Cytoband4q12
Allele length
AssemblyAllele length
hg386000
hg196000
hg186000
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3399485
Supporting Variants
SamplesNA12815
Known GenesLRRC66
MethodSequencing
Analysis
Platform454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv9615113
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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