A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2746945



Internal ID9981229
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:132298708..132299907hg38UCSC Ensembl
Outerchr12:132875294..132876493hg19UCSC Ensembl
Cytoband12q24.33
Allele length
AssemblyAllele length
hg381200
hg191200
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6972151, essv6846032, essv6831404, essv6685177, essv6755658, essv6920311, essv6842543, essv6739276, essv6894750, essv6945067
SamplesSSM007, SSM084, SSM085, SSM017, SSM034, SSM023, SSM004, SSM098, SSM058, SSM081
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)esv2746945
Frequency
Sample Size96
Observed Gain0
Observed Loss10
Observed Complex0
Frequencyn/a


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