A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5632762



Internal ID8610165
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:40709918..40711606hg38UCSC Ensembl
Outerchr8:40709761..40711759hg38UCSC Ensembl
Innerchr8:40567437..40569125hg19UCSC Ensembl
Outerchr8:40567280..40569278hg19UCSC Ensembl
Cytoband8p11.21
Allele length
AssemblyAllele length
hg381999
hg191999
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv2664427
Supporting Variants
SamplesHG01167
Known GenesZMAT4
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv5632762
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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