A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6747958



Internal ID9809970
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:246395408..246396167hg38UCSC Ensembl
Outerchr1:246558710..246559469hg19UCSC Ensembl
Cytoband1q44
Allele length
AssemblyAllele length
hg38760
hg19760
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2727340
Supporting Variants
SamplesSSM056
Known GenesSMYD3
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)essv6747958
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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