A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2746528



Internal ID9980812
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:124339550..124339812hg38UCSC Ensembl
Outerchr12:124824096..124824358hg19UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg38263
hg19263
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6846011, essv6851318, essv6867261, essv6735258, essv6862482
SamplesSSM088, SSM089, SSM086, SSM085, SSM049
Known GenesNCOR2
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)esv2746528
Frequency
Sample Size96
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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