A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8672218



Internal ID13322324
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:102461478..102461490hg38UCSC Ensembl
Innerchr12:102461476..102461490hg38UCSC Ensembl
Outerchr12:102461464..102461502hg38UCSC Ensembl
chr12:102855256..102855268hg19UCSC Ensembl
Innerchr12:102855254..102855268hg19UCSC Ensembl
Outerchr12:102855242..102855280hg19UCSC Ensembl
chr12:101379386..101379398hg18UCSC Ensembl
Innerchr12:101379398..101379384hg18UCSC Ensembl
Outerchr12:101379372..101379410hg18UCSC Ensembl
Cytoband12q23.2
Allele length
AssemblyAllele length
hg38289
hg19289
hg18289
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3445771
Supporting Variants
SamplesNA12878
Known GenesIGF1
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8672218
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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