A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6816815



Internal ID9875544
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:230275629..230276271hg38UCSC Ensembl
Outerchr1:230411375..230412017hg19UCSC Ensembl
Cytoband1q42.13
Allele length
AssemblyAllele length
hg38643
hg19643
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2724606
Supporting Variants
SamplesSSM078
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)essv6816815
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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