A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2724069



Internal ID9958370
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr22:24612540..24612972hg38UCSC Ensembl
Outerchr22:25008507..25008939hg19UCSC Ensembl
Cytoband22q11.23
Allele length
AssemblyAllele length
hg38433
hg19433
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6769341, essv6696799
SamplesSSM064, SSM037
Known GenesGGT1
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)esv2724069
Frequency
Sample Size96
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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