A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6835995



Internal ID10235691
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr22:44652750..44653003hg38UCSC Ensembl
Outerchr22:45048630..45048883hg19UCSC Ensembl
Cytoband22q13.31
Allele length
AssemblyAllele length
hg38254
hg19254
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2724359, esv2724358
Supporting Variants
SamplesSSM082
Known Genes
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)essv6835995
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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