A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7843480



Internal ID13275936
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:53290716..53290716hg38UCSC Ensembl
chr12:53684500..53684500hg19UCSC Ensembl
chr12:51970767..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 StatusS
Merged Variantsesv3310490
Supporting Variants
SamplesNA12878
Known GenesESPL1
MethodSequencing
AnalysisCortex reference assisted, Cortex de-novo, and SOAP
PlatformRoche 454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv7843480
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer