A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6675418



Internal ID9745435
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:248044532..248044836hg38UCSC Ensembl
Outerchr1:248207834..248208138hg19UCSC Ensembl
Cytoband1q44
Allele length
AssemblyAllele length
hg38305
hg19305
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2727984, esv2727929
Supporting Variants
SamplesSSM032
Known GenesOR2L13
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)essv6675418
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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