A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2674624



Internal ID9940729
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:49960861..50052346hg38UCSC Ensembl
Outerchr8:49960824..50052396hg38UCSC Ensembl
Innerchr8:50873421..50964906hg19UCSC Ensembl
Outerchr8:50873384..50964956hg19UCSC Ensembl
Cytoband8q11.21
Allele length
AssemblyAllele length
hg3891573
hg1991573
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6532729
SamplesNA19093
Known GenesSNTG1
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2674624
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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