A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3437425



Internal ID14937692
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:76429271..76429283hg38UCSC Ensembl
Innerchr12:76429262..76429292hg38UCSC Ensembl
Outerchr12:76429248..76429304hg38UCSC Ensembl
chr12:76823051..76823063hg19UCSC Ensembl
Innerchr12:76823042..76823072hg19UCSC Ensembl
Outerchr12:76823028..76823084hg19UCSC Ensembl
chr12:75347182..75347194hg18UCSC Ensembl
Innerchr12:75347203..75347173hg18UCSC Ensembl
Outerchr12:75347159..75347215hg18UCSC Ensembl
Cytoband12q21.2
Allele length
AssemblyAllele length
hg38288
hg19288
hg18288
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8958304, essv8958272, essv8958297, essv8958271, essv8958306, essv8958301, essv8958300, essv8958285, essv8958277, essv8958289, essv8958293, essv8958295, essv8958288, essv8958284, essv8958273, essv8958280, essv8958299, essv8958309, essv8958296, essv8958282, essv8958283, essv8958279, essv8958307, essv8958276, essv8958305, essv8958275, essv8958290, essv8958274, essv8958302, essv8958287, essv8958278, essv8958308, essv8958286, essv8958294, essv8958291, essv8958298
SamplesNA11830, NA11995, NA11829, NA18980, NA18561, NA11920, NA12045, NA12751, NA12004, NA18504, NA18959, NA18870, NA07357, NA18550, NA18519, NA07347, NA18582, NA12156, NA12828, NA11831, NA18516, NA19114, NA11919, NA12249, NA18853, NA12144, NA18570, NA18608, NA11881, NA07051, NA12763, NA18501, NA18505, NA12006, NA07000, NA18965
Known GenesOSBPL8
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3437425
Frequency
Sample Size185
Observed Gain36
Observed Loss0
Observed Complex0
Frequencyn/a


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