A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2745658



Internal ID9979942
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:26783768..26784217hg38UCSC Ensembl
Outerchr12:26936701..26937150hg19UCSC Ensembl
Cytoband12p11.23
Allele length
AssemblyAllele length
hg38450
hg19450
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6940342, essv6924342, essv6977178, essv6685079
SamplesSSM018, SSM029, SSM022, SSM034
Known GenesITPR2
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)esv2745658
Frequency
Sample Size96
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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