A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2745425



Internal ID10326395
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:2843596..2844202hg38UCSC Ensembl
Outerchr12:2952762..2953368hg19UCSC Ensembl
Cytoband12p13.33
Allele length
AssemblyAllele length
hg38607
hg19607
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6949051, essv6728291, essv6743994, essv6834610, essv6959201, essv6953183, essv6718153, essv6912550, essv6768467, essv6977103, essv6806348, essv6732083, essv6706177, essv6720640, essv6800176, essv6795990, essv6900612, essv6749652, essv6965721, essv6787716
SamplesSSM100, SSM071, SSM027, SSM024, SSM046, SSM064, SSM074, SSM047, SSM069, SSM029, SSM026, SSM044, SSM001, SSM040, SSM072, SSM015, SSM053, SSM010, SSM025, SSM056
Known GenesLOC100507424
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)esv2745425
Frequency
Sample Size96
Observed Gain0
Observed Loss20
Observed Complex0
Frequencyn/a


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