A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9759925



Internal ID18387485
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:233722947..233725221hg38UCSC Ensembl
Outerchr2:233722752..233725505hg38UCSC Ensembl
Innerchr2:234631593..234633867hg19UCSC Ensembl
Outerchr2:234631398..234634151hg19UCSC Ensembl
Cytoband2q37.1
Allele length
AssemblyAllele length
hg382754
hg192754
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3561178
Supporting Variants
Samples
Known GenesUGT1A10, UGT1A4, UGT1A5, UGT1A6, UGT1A7, UGT1A8, UGT1A9
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)essv9759925
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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