A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2745628



Internal ID3293580
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:21894536..21894693hg38UCSC Ensembl
Outerchr12:22047470..22047627hg19UCSC Ensembl
Cytoband12p12.1
Allele length
AssemblyAllele length
hg38158
hg19158
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6673141, essv6879490, essv6819682, essv6857186
SamplesSSM078, SSM031, SSM093, SSM087
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)esv2745628
Frequency
Sample Size96
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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