A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2746940



Internal ID9981224
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:132293672..132294019hg38UCSC Ensembl
Outerchr12:132870258..132870605hg19UCSC Ensembl
Cytoband12q24.33
Allele length
AssemblyAllele length
hg38348
hg19348
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6673320, essv6827827
SamplesSSM031, SSM080
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)esv2746940
Frequency
Sample Size96
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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