A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8687954



Internal ID15076544
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:133177058..133178456hg38UCSC Ensembl
Innerchr10:133177456..133178058hg38UCSC Ensembl
Outerchr10:133176058..133179456hg38UCSC Ensembl
chr10:134990562..134991960hg19UCSC Ensembl
Innerchr10:134990960..134991562hg19UCSC Ensembl
Outerchr10:134989562..134992960hg19UCSC Ensembl
chr10:134840552..134841950hg18UCSC Ensembl
Innerchr10:134841552..134840950hg18UCSC Ensembl
Outerchr10:134839552..134842950hg18UCSC 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 Variantsesv3362575
Supporting Variants
SamplesNA19240
Known GenesKNDC1
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8687954
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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