A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5821590



Internal ID8798993
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:12017601..12603908hg38UCSC Ensembl
Outerchr8:12017567..12603943hg38UCSC Ensembl
Innerchr8:11875110..12461417hg19UCSC Ensembl
Outerchr8:11875076..12461452hg19UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg38586377
hg19586377
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv2670984
Supporting Variants
SamplesNA19734
Known GenesDEFB109P1, DEFB130, FAM66A, FAM66D, FAM86B1, FAM86B2, FAM90A25P, FAM90A2P, LOC100133267, LOC100506990, LOC392196, LOC649352, LOC729732, USP17L2, USP17L7, ZNF705D
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv5821590
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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