A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2745625



Internal ID3293577
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:21863231..21863323hg38UCSC Ensembl
Outerchr12:22016165..22016257hg19UCSC Ensembl
Cytoband12p12.1
Allele length
AssemblyAllele length
hg3893
hg1993
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6673140, essv6959254
SamplesSSM031, SSM026
Known GenesABCC9
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)esv2745625
Frequency
Sample Size96
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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