A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8740677



Internal ID13637745
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:125910024..125910088hg38UCSC Ensembl
Innerchr10:125910038..125910074hg38UCSC Ensembl
Outerchr10:125909974..125910138hg38UCSC Ensembl
chr10:127598593..127598657hg19UCSC Ensembl
Innerchr10:127598607..127598643hg19UCSC Ensembl
Outerchr10:127598543..127598707hg19UCSC Ensembl
chr10:127588583..127588647hg18UCSC Ensembl
Innerchr10:127588633..127588597hg18UCSC Ensembl
Outerchr10:127588533..127588697hg18UCSC Ensembl
Cytoband10q26.2
Allele length
AssemblyAllele length
hg3865
hg1965
hg1865
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag0
Merged StatusS
Merged Variantsesv3433939
Supporting Variants
SamplesNA12878
Known GenesFANK1
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8740677
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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