A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2669237



Internal ID9935342
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:127255761..127259407hg38UCSC Ensembl
Outerchr8:127255604..127259560hg38UCSC Ensembl
Innerchr8:128268006..128271652hg19UCSC Ensembl
Outerchr8:128267849..128271805hg19UCSC Ensembl
Cytoband8q24.21
Allele length
AssemblyAllele length
hg383957
hg193957
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6530138
SamplesHG01334
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2669237
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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