A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6886126



Internal ID9934488
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:230275910..230276058hg38UCSC Ensembl
Outerchr1:230411656..230411804hg19UCSC Ensembl
Cytoband1q42.13
Allele length
AssemblyAllele length
hg38149
hg19149
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2724617, esv2724606
Supporting Variants
SamplesSSM096
Known GenesGALNT2
MethodSequencing
AnalysisBreakdancer:4 times standard deviation,VariationHunter:4 times standard deviation and at least 3 supportting reads
PlatformIllumina HiSeq 2000
Comments
ReferenceWong_et_al_2012b
Pubmed ID23290073
Accession Number(s)essv6886126
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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