A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3306704



Internal ID14806966
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:76795220..76795221hg38UCSC Ensembl
Innerchr12:76795167..76795274hg38UCSC Ensembl
Outerchr12:76795166..76795275hg38UCSC Ensembl
chr12:77189000..77189001hg19UCSC Ensembl
Innerchr12:77188947..77189054hg19UCSC Ensembl
Outerchr12:77188946..77189055hg19UCSC Ensembl
chr12:75713131..75713132hg18UCSC Ensembl
Innerchr12:75713185..75713078hg18UCSC Ensembl
Outerchr12:75713077..75713186hg18UCSC Ensembl
Cytoband12q21.2
Allele length
AssemblyAllele length
hg38251
hg19251
hg18251
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7744664, essv7758724, essv7759164, essv7741080, essv7761482
SamplesNA18517, NA18508, NA19190, NA19129, NA18499
Known GenesZDHHC17
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3306704
Frequency
Sample Size185
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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