A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2740816



Internal ID9975159
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:132304692..132305603hg38UCSC Ensembl
Outerchr12:132881278..132882189hg19UCSC Ensembl
Cytoband12q24.33
Allele length
AssemblyAllele length
hg38912
hg19912
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv217e201
Supporting Variantsessv6677925
SamplesSSM032
Known GenesGALNT9
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)esv2740816
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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