A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2746936



Internal ID9981220
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:132279709..132280197hg38UCSC Ensembl
Outerchr12:132856295..132856783hg19UCSC Ensembl
Cytoband12q24.33
Allele length
AssemblyAllele length
hg38489
hg19489
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6939929, essv6724597, essv6924453
SamplesSSM045, SSM018, SSM003
Known GenesGALNT9, LOC100130238
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)esv2746936
Frequency
Sample Size96
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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