A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2748341



Internal ID9982625
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:54626512..54630295hg38UCSC Ensembl
Outerchr1:55092185..55095968hg19UCSC Ensembl
Cytoband1p32.3
Allele length
AssemblyAllele length
hg383784
hg193784
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6750632, essv6844065, essv6748843, essv6766573, essv6738840
SamplesSSM008, SSM011, SSM064, SSM057, SSM052
Known GenesACOT11
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)esv2748341
Frequency
Sample Size96
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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