A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3310490



Internal ID14810755
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:53290716..53290716hg38UCSC Ensembl
Outerchr12:53290716..53290716hg38UCSC Ensembl
Innerchr12:53684500..53684500hg19UCSC Ensembl
Outerchr12:53684500..53684500hg19UCSC Ensembl
Innerchr12:51970767..51970767hg18UCSC Ensembl
Outerchr12:51970767..51970767hg18UCSC Ensembl
Cytoband12q13.13
Allele length
AssemblyAllele length
hg38141
hg19141
hg18141
Variant TypeCNV novel sequence insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7843480, essv7843478, essv7843485, essv7843483
SamplesNA19239, NA19238, NA12878, NA19240
Known GenesESPL1
MethodSequencing
AnalysisCortex reference assisted, Cortex de-novo, and SOAP
PlatformRoche 454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3310490
Frequency
Sample Size185
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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