A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8740768



Internal ID13291863
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:24682300..24682361hg38UCSC Ensembl
Innerchr13:24682311..24682350hg38UCSC Ensembl
Outerchr13:24682250..24682411hg38UCSC Ensembl
chr13:25256438..25256499hg19UCSC Ensembl
Innerchr13:25256449..25256488hg19UCSC Ensembl
Outerchr13:25256388..25256549hg19UCSC Ensembl
chr13:24154438..24154499hg18UCSC Ensembl
Innerchr13:24154488..24154449hg18UCSC Ensembl
Outerchr13:24154388..24154549hg18UCSC Ensembl
Cytoband13q12.12
Allele length
AssemblyAllele length
hg3862
hg1962
hg1862
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag0
Merged StatusS
Merged Variantsesv3410762
Supporting Variants
SamplesNA12878
Known GenesATP12A
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8740768
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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