A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2745562



Internal ID3293514
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:11873456..11874230hg38UCSC Ensembl
Outerchr12:12026390..12027164hg19UCSC Ensembl
Cytoband12p13.2
Allele length
AssemblyAllele length
hg38775
hg19775
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6931834, essv6920178, essv6673129, essv6738398, essv6760964, essv6722043, essv6744019, essv6965758, essv6735179, essv6944942, essv6936115, essv6899254, essv6805665, essv6737881, essv6681566, essv6741061, essv6758218, essv6771954, essv6939041, essv6908607
SamplesSSM007, SSM027, SSM053, SSM033, SSM061, SSM031, SSM020, SSM001, SSM050, SSM012, SSM017, SSM009, SSM003, SSM021, SSM002, SSM023, SSM052, SSM049, SSM008, SSM059
Known GenesETV6, RNU6-19P
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)esv2745562
Frequency
Sample Size96
Observed Gain0
Observed Loss20
Observed Complex0
Frequencyn/a


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