A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3443682



Internal ID14943949
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:107400300..107400322hg38UCSC Ensembl
Innerchr5:107400299..107400321hg38UCSC Ensembl
Outerchr5:107400279..107400343hg38UCSC Ensembl
chr5:106736001..106736023hg19UCSC Ensembl
Innerchr5:106736000..106736022hg19UCSC Ensembl
Outerchr5:106735980..106736044hg19UCSC Ensembl
chr5:106763900..106763922hg18UCSC Ensembl
Innerchr5:106763921..106763899hg18UCSC Ensembl
Outerchr5:106763879..106763943hg18UCSC Ensembl
Cytoband5q21.3
Allele length
AssemblyAllele length
hg38239
hg19239
hg18239
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8925989, essv8925993, essv8925992, essv8926000, essv8926001, essv8925994, essv8925990, essv8925997, essv8925998, essv8925995, essv8925996, essv8925999
SamplesNA18502, NA18861, NA19190, NA18519, NA19138, NA19172, NA12828, NA19210, NA19257, NA18858, NA18501, NA19116
Known GenesEFNA5
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3443682
Frequency
Sample Size185
Observed Gain12
Observed Loss0
Observed Complex0
Frequencyn/a


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