A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3309220



Internal ID14809483
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:102461473..102461474hg38UCSC Ensembl
Innerchr12:102461456..102461491hg38UCSC Ensembl
Outerchr12:102461455..102461492hg38UCSC Ensembl
chr12:102855251..102855252hg19UCSC Ensembl
Innerchr12:102855234..102855269hg19UCSC Ensembl
Outerchr12:102855233..102855270hg19UCSC Ensembl
chr12:101379381..101379382hg18UCSC Ensembl
Innerchr12:101379399..101379364hg18UCSC Ensembl
Outerchr12:101379363..101379400hg18UCSC Ensembl
Cytoband12q23.2
Allele length
AssemblyAllele length
hg38289
hg19289
hg18289
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7840288, essv7841416
SamplesNA12892, NA12878
Known GenesIGF1
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3309220
Frequency
Sample Size185
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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