A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2656646



Internal ID9576065
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:12013491..12657766hg38UCSC Ensembl
Outerchr8:12013457..12657801hg38UCSC Ensembl
Innerchr8:11871000..12515275hg19UCSC Ensembl
Outerchr8:11870966..12515310hg19UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg38644345
hg19644345
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1270e199
Supporting Variantsessv5484659
SamplesHG00566
Known GenesDEFB109P1, DEFB130, FAM66A, FAM66D, FAM86B1, FAM86B2, FAM90A25P, FAM90A2P, LOC100133267, LOC100506990, LOC392196, LOC649352, LOC729732, USP17L2, USP17L7, ZNF705D
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2656646
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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