A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2745927



Internal ID10326897
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:56441993..56442181hg38UCSC Ensembl
Outerchr12:56835777..56835965hg19UCSC Ensembl
Cytoband12q13.3
Allele length
AssemblyAllele length
hg38189
hg19189
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6724528, essv6805965, essv6796058, essv6851218, essv6803531, essv6959301, essv6685110, essv6713019, essv6815489
SamplesSSM071, SSM045, SSM009, SSM073, SSM042, SSM026, SSM086, SSM077, SSM034
Known GenesTIMELESS
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)esv2745927
Frequency
Sample Size96
Observed Gain0
Observed Loss9
Observed Complex0
Frequencyn/a


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