A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6889202



Internal ID9937077
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:246395512..246395880hg38UCSC Ensembl
Outerchr1:246558814..246559182hg19UCSC Ensembl
Cytoband1q44
Allele length
AssemblyAllele length
hg38369
hg19369
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2727340
Supporting Variants
SamplesSSM097
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)essv6889202
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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