A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2745387



Internal ID9979671
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:1173565..1174360hg38UCSC Ensembl
Outerchr12:1282731..1283526hg19UCSC Ensembl
Cytoband12p13.33
Allele length
AssemblyAllele length
hg38796
hg19796
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6873633, essv6688242, essv6749643, essv6743990
SamplesSSM053, SSM091, SSM035, SSM056
Known GenesERC1
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)esv2745387
Frequency
Sample Size96
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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