A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2746844



Internal ID10327814
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:131366636..131367588hg38UCSC Ensembl
Outerchr12:131851181..131852133hg19UCSC Ensembl
Cytoband12q24.33
Allele length
AssemblyAllele length
hg38953
hg19953
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6945061, essv6772146, essv6977390, essv6867286, essv6823728, essv6959433, essv6709592, essv6894740, essv6706305, essv6867288, essv6685173, essv6673312, essv6912704, essv6916219, essv6857359, essv6800322, essv6815553, essv6791946, essv6728428, essv6851362, essv6928009, essv6691691, essv6773187, essv6949186, essv6965948, essv6920298, essv6677919
SamplesSSM036, SSM008, SSM027, SSM024, SSM046, SSM079, SSM065, SSM087, SSM041, SSM023, SSM029, SSM026, SSM089, SSM017, SSM019, SSM032, SSM031, SSM086, SSM040, SSM072, SSM015, SSM016, SSM077, SSM070, SSM034, SSM098
Known GenesLOC338797
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)esv2746844
Frequency
Sample Size96
Observed Gain0
Observed Loss26
Observed Complex0
Frequencyn/a


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