A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6750985



Internal ID9813941
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:4619464..4619974hg38UCSC Ensembl
Outerchr3:4661148..4661658hg19UCSC Ensembl
Cytoband3p26.1
Allele length
AssemblyAllele length
hg38511
hg19511
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2724827
Supporting Variants
SamplesSSM057
Known GenesITPR1
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)essv6750985
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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