A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3426248



Internal ID15273205
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:132571358..132574356hg38UCSC Ensembl
Innerchr10:132572358..132573356hg38UCSC Ensembl
Outerchr10:132570358..132575356hg38UCSC Ensembl
chr10:134384862..134387860hg19UCSC Ensembl
Innerchr10:134385862..134386860hg19UCSC Ensembl
Outerchr10:134383862..134388860hg19UCSC Ensembl
chr10:134234852..134237850hg18UCSC Ensembl
Innerchr10:134235852..134236850hg18UCSC Ensembl
Outerchr10:134233852..134238850hg18UCSC Ensembl
Cytoband10q26.3
Allele length
AssemblyAllele length
hg382999
hg192999
hg182999
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8687936
SamplesNA19240
Known GenesINPP5A
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3426248
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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