A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7864485



Internal ID13316988
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:88676567..88676575hg38UCSC Ensembl
Innerchr5:88676569..88676573hg38UCSC Ensembl
Outerchr5:88676565..88676577hg38UCSC Ensembl
chr5:87972385..87972393hg19UCSC Ensembl
Innerchr5:87972387..87972391hg19UCSC Ensembl
Outerchr5:87972383..87972395hg19UCSC Ensembl
chr5:88008141..88008149hg18UCSC Ensembl
Innerchr5:88008143..88008147hg18UCSC Ensembl
Outerchr5:88008139..88008151hg18UCSC Ensembl
Cytoband5q14.3
Allele length
AssemblyAllele length
hg3850
hg1950
hg1850
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3427087
Supporting Variants
SamplesNA12005
Known GenesLINC00461
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv7864485
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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