A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2664427



Internal ID9583846
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 Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5632762
SamplesHG01167
Known GenesZMAT4
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2664427
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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