A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6729447



Internal ID10139984
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr22:46630723..46631092hg38UCSC Ensembl
Outerchr22:47026620..47026989hg19UCSC Ensembl
Cytoband22q13.31
Allele length
AssemblyAllele length
hg38370
hg19370
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2724442, esv2724443
Supporting Variants
SamplesSSM046
Known GenesGRAMD4
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)essv6729447
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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