A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2668860



Internal ID9934965
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:117995608..118000300hg38UCSC Ensembl
Outerchr8:117995451..118000453hg38UCSC Ensembl
Innerchr8:119007847..119012539hg19UCSC Ensembl
Outerchr8:119007690..119012692hg19UCSC Ensembl
Cytoband8q24.11
Allele length
AssemblyAllele length
hg385003
hg195003
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6007180, essv6002568
SamplesNA20768, NA19676
Known GenesEXT1
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2668860
Frequency
Sample Size1151
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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