A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6001346



Internal ID8722281
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:35247298..35249804hg38UCSC Ensembl
Outerchr8:35246827..35250174hg38UCSC Ensembl
Innerchr8:35104816..35107322hg19UCSC Ensembl
Outerchr8:35104345..35107692hg19UCSC Ensembl
Cytoband8p12
Allele length
AssemblyAllele length
hg383348
hg193348
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv2663532
Supporting Variants
SamplesHG00106
Known GenesUNC5D
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv6001346
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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