A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2670300



Internal ID9589719
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:91174851..91178449hg38UCSC Ensembl
Outerchr8:91174814..91178499hg38UCSC Ensembl
Innerchr8:92187079..92190677hg19UCSC Ensembl
Outerchr8:92187042..92190727hg19UCSC Ensembl
Cytoband8q21.3
Allele length
AssemblyAllele length
hg383686
hg193686
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6171954
SamplesNA19375
Known GenesLRRC69
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2670300
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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