A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8687952



Internal ID15039069
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:133176958..133178356hg38UCSC Ensembl
Innerchr10:133177356..133177958hg38UCSC Ensembl
Outerchr10:133175958..133179356hg38UCSC Ensembl
chr10:134990462..134991860hg19UCSC Ensembl
Innerchr10:134990860..134991462hg19UCSC Ensembl
Outerchr10:134989462..134992860hg19UCSC Ensembl
chr10:134840452..134841850hg18UCSC Ensembl
Innerchr10:134841452..134840850hg18UCSC Ensembl
Outerchr10:134839452..134842850hg18UCSC Ensembl
Cytoband10q26.3
Allele length
AssemblyAllele length
hg381399
hg191399
hg181399
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3391955
Supporting Variants
SamplesNA19239
Known GenesKNDC1
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8687952
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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