A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8701278



Internal ID13642329
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:124209013..124209013hg38UCSC Ensembl
Innerchr12:124209012..124209014hg38UCSC Ensembl
Outerchr12:124208963..124209063hg38UCSC Ensembl
chr12:124693559..124693559hg19UCSC Ensembl
Innerchr12:124693558..124693560hg19UCSC Ensembl
Outerchr12:124693509..124693609hg19UCSC Ensembl
chr12:123259512..123259512hg18UCSC Ensembl
Innerchr12:123259513..123259511hg18UCSC Ensembl
Outerchr12:123259462..123259562hg18UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg38556
hg19556
hg18556
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag0
Merged StatusS
Merged Variantsesv3448716
Supporting Variants
SamplesNA12878
Known GenesZNF664-FAM101A
MethodSequencing
Analysis
Platform454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8701278
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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