A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3308213



Internal ID14808475
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:24298785..24298786hg38UCSC Ensembl
Innerchr12:24298769..24298802hg38UCSC Ensembl
Outerchr12:24298768..24298803hg38UCSC Ensembl
chr12:24451719..24451720hg19UCSC Ensembl
Innerchr12:24451703..24451736hg19UCSC Ensembl
Outerchr12:24451702..24451737hg19UCSC Ensembl
chr12:24342986..24342987hg18UCSC Ensembl
Innerchr12:24343003..24342970hg18UCSC Ensembl
Outerchr12:24342969..24343004hg18UCSC Ensembl
Cytoband12p12.1
Allele length
AssemblyAllele length
hg38295
hg19295
hg18295
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7841477, essv7840194, essv7840940
SamplesNA12892, NA12891, NA12878
Known GenesSOX5
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3308213
Frequency
Sample Size185
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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