A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8950931



Internal ID14059560
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:127392027..127392039hg38UCSC Ensembl
Innerchr10:127392018..127392048hg38UCSC Ensembl
Outerchr10:127392006..127392060hg38UCSC Ensembl
chr10:129190291..129190303hg19UCSC Ensembl
Innerchr10:129190282..129190312hg19UCSC Ensembl
Outerchr10:129190270..129190324hg19UCSC Ensembl
chr10:129080281..129080293hg18UCSC Ensembl
Innerchr10:129080302..129080272hg18UCSC Ensembl
Outerchr10:129080260..129080314hg18UCSC Ensembl
Cytoband10q26.2
Allele length
AssemblyAllele length
hg38289
hg19289
hg18289
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3356897
Supporting Variants
SamplesNA18558
Known GenesDOCK1
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8950931
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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