A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7787988



Internal ID14310845
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:127392027..127392028hg38UCSC Ensembl
Innerchr10:127392010..127392045hg38UCSC Ensembl
Outerchr10:127392009..127392046hg38UCSC Ensembl
chr10:129190291..129190292hg19UCSC Ensembl
Innerchr10:129190274..129190309hg19UCSC Ensembl
Outerchr10:129190273..129190310hg19UCSC Ensembl
chr10:129080281..129080282hg18UCSC Ensembl
Innerchr10:129080299..129080264hg18UCSC Ensembl
Outerchr10:129080263..129080300hg18UCSC Ensembl
Cytoband10q26.2
Allele length
AssemblyAllele length
hg38291
hg19291
hg18291
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3306875
Supporting Variants
SamplesNA18608
Known GenesDOCK1
MethodSequencing
Analysis
PlatformRoche 454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv7787988
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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