A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2746950



Internal ID9981234
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:132308631..132309073hg38UCSC Ensembl
Outerchr12:132885217..132885659hg19UCSC Ensembl
Cytoband12q24.33
Allele length
AssemblyAllele length
hg38443
hg19443
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6905008, essv6673322
SamplesSSM013, SSM031
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)esv2746950
Frequency
Sample Size96
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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