A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6718843



Internal ID9997043
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:10744195..10744874hg38UCSC Ensembl
Outerchr1:10804252..10804931hg19UCSC Ensembl
Cytoband1p36.22
Allele length
AssemblyAllele length
hg38680
hg19680
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2743708
Supporting Variants
SamplesSSM007
Known GenesCASZ1
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)essv6718843
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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