A curated catalogue of human genomic structural variation




Variant Details

Variant: essv3569812



Internal ID6694508
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 StateHeterozygous
Allele OriginNot tested
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1005988
Supporting Variants
SamplesHuRef
Known GenesLRRC69
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)essv3569812
Frequency
Sample Size3
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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