A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6002568



Internal ID9888385
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 StatusS
Merged Variantsesv2668860
Supporting Variants
SamplesNA20768
Known GenesEXT1
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv6002568
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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