A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1005988



Internal ID6718109
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:91174054..91174055hg38UCSC Ensembl
chr8:92186282..92186283hg19UCSC Ensembl
chr8:92255458..92255459hg18UCSC Ensembl
Cytoband8q21.3
Allele length
AssemblyAllele length
hg3871
hg1971
hg1871
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3569812
SamplesHuRef
Known GenesLRRC69
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv1005988
Frequency
Sample Size3
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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