A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2724572



Internal ID9958874
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:230196852..230197215hg38UCSC Ensembl
Outerchr1:230332598..230332961hg19UCSC Ensembl
Cytoband1q42.13
Allele length
AssemblyAllele length
hg38364
hg19364
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6797644
SamplesSSM072
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)esv2724572
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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