A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2746555



Internal ID10327525
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:125089428..125090707hg38UCSC Ensembl
Outerchr12:125573974..125575253hg19UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg381280
hg191280
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6949165, essv6685150, essv6927994, essv6931924, essv6936221, essv6920275, essv6916201, essv6834953, essv6791923, essv6965900, essv6959390, essv6977345, essv6772119, essv6673263, essv6857329, essv6971962, essv6912683, essv6888052, essv6695634, essv6908960, essv6768559, essv6720767, essv6779537
SamplesSSM027, SSM024, SSM064, SSM065, SSM087, SSM021, SSM029, SSM096, SSM026, SSM017, SSM019, SSM031, SSM067, SSM044, SSM014, SSM082, SSM020, SSM015, SSM016, SSM037, SSM070, SSM034, SSM004
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)esv2746555
Frequency
Sample Size96
Observed Gain0
Observed Loss23
Observed Complex0
Frequencyn/a


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