A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7735324



Internal ID13443693
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:64115120..64288299hg38UCSC Ensembl
Outerchr2:64114920..64288499hg38UCSC Ensembl
Innerchr2:64342254..64515433hg19UCSC Ensembl
Outerchr2:64342054..64515633hg19UCSC Ensembl
Innerchr2:64195758..64368937hg18UCSC Ensembl
Outerchr2:64195558..64369137hg18UCSC Ensembl
Cytoband2p14
Allele length
AssemblyAllele length
hg38173580
hg19173580
hg18173580
Variant TypeCNV tandem duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3302963
Supporting Variants
SamplesNA18502
Known GenesLINC00309, PELI1
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv7735324
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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