A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2745494



Internal ID10326464
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:7816039..7816448hg38UCSC Ensembl
Outerchr12:7968635..7969044hg19UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg38410
hg19410
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6800185, essv6668193, essv6965731, essv6970767
SamplesSSM027, SSM028, SSM072, SSM030
Known GenesSLC2A14
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)esv2745494
Frequency
Sample Size96
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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