A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2746894



Internal ID10327864
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:131767004..131767161hg38UCSC Ensembl
Outerchr12:132251549..132251706hg19UCSC Ensembl
Cytoband12q24.33
Allele length
AssemblyAllele length
hg38158
hg19158
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6815556, essv6857367, essv6673315, essv6891364, essv6702558, essv6851366
SamplesSSM087, SSM097, SSM039, SSM031, SSM086, SSM077
Known GenesSFSWAP
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)esv2746894
Frequency
Sample Size96
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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