A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3341853



Internal ID14842121
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:76795223..76795263hg38UCSC Ensembl
Innerchr12:76795226..76795258hg38UCSC Ensembl
Outerchr12:76795186..76795300hg38UCSC Ensembl
chr12:77189003..77189043hg19UCSC Ensembl
Innerchr12:77189006..77189038hg19UCSC Ensembl
Outerchr12:77188966..77189080hg19UCSC Ensembl
chr12:75713134..75713174hg18UCSC Ensembl
Innerchr12:75713169..75713137hg18UCSC Ensembl
Outerchr12:75713097..75713211hg18UCSC Ensembl
Cytoband12q21.2
Allele length
AssemblyAllele length
hg38251
hg19251
hg18251
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8958312, essv8958311, essv8958310, essv8958313, essv8958315
SamplesNA18517, NA18508, NA19190, NA19129, NA18499
Known GenesZDHHC17
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3341853
Frequency
Sample Size185
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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