A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2746295



Internal ID9980579
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:103748412..103748832hg38UCSC Ensembl
Outerchr12:104142190..104142610hg19UCSC Ensembl
Cytoband12q23.3
Allele length
AssemblyAllele length
hg38421
hg19421
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6851286, essv6912666, essv6695611, essv6945021
SamplesSSM023, SSM086, SSM015, SSM037
Known GenesSTAB2
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)esv2746295
Frequency
Sample Size96
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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