A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2746556



Internal ID9980840
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:125089876..125090259hg38UCSC Ensembl
Outerchr12:125574422..125574805hg19UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg38384
hg19384
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6949165, essv6685150, essv6834953, essv6791923, essv6965900, essv6673263, essv6912683, essv6888052, essv6695634, essv6720767, essv6779537
SamplesSSM027, SSM024, SSM096, SSM031, SSM067, SSM044, SSM082, SSM015, SSM037, SSM070, SSM034
Known GenesAACS
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)esv2746556
Frequency
Sample Size96
Observed Gain0
Observed Loss11
Observed Complex0
Frequencyn/a


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