A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2745570



Internal ID9979854
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:13024469..13025261hg38UCSC Ensembl
Outerchr12:13177403..13178195hg19UCSC Ensembl
Cytoband12p13.1
Allele length
AssemblyAllele length
hg38793
hg19793
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6716791, essv6687398, essv6924335, essv6879485, essv6706213, essv6873680, essv6845945, essv6805676, essv6920179
SamplesSSM009, SSM093, SSM018, SSM017, SSM085, SSM040, SSM005, SSM091, SSM043
Known Genes
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)esv2745570
Frequency
Sample Size96
Observed Gain0
Observed Loss9
Observed Complex0
Frequencyn/a


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