A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3417176



Internal ID15264134
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:60292650..60292666hg38UCSC Ensembl
Innerchr14:60292652..60292664hg38UCSC Ensembl
Outerchr14:60292648..60292668hg38UCSC Ensembl
chr14:60759368..60759384hg19UCSC Ensembl
Innerchr14:60759370..60759382hg19UCSC Ensembl
Outerchr14:60759366..60759386hg19UCSC Ensembl
chr14:59829121..59829137hg18UCSC Ensembl
Innerchr14:59829123..59829135hg18UCSC Ensembl
Outerchr14:59829119..59829139hg18UCSC Ensembl
Cytoband14q23.1
Allele length
AssemblyAllele length
hg3855
hg1955
hg1855
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7865745
SamplesNA12005
Known GenesPPM1A
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3417176
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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