A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3343580



Internal ID14843848
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:46399419..46597271hg38UCSC Ensembl
Innerchr10:46400419..46596271hg38UCSC Ensembl
Outerchr10:46398418..46598271hg38UCSC Ensembl
chr10:46952346..47150344hg19UCSC Ensembl
Innerchr10:46953346..47149344hg19UCSC Ensembl
Outerchr10:46951346..47151344hg19UCSC Ensembl
chr10:46372352..46570350hg18UCSC Ensembl
Innerchr10:46373352..46569350hg18UCSC Ensembl
Outerchr10:46371352..46571350hg18UCSC Ensembl
Cytoband10q11.22
Allele length
AssemblyAllele length
hg38197853
hg19197999
hg18197999
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv409e59
Supporting Variantsessv8688058
SamplesNA19239
Known GenesGPRIN2, HNRNPA1P33, LINC00842, LOC100996758, NPY4R, SYT15
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3343580
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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