A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2745774



Internal ID10326744
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:27668979..27669107hg38UCSC Ensembl
Outerchr1:27995490..27995618hg19UCSC Ensembl
Cytoband1p36.11
Allele length
AssemblyAllele length
hg38129
hg19129
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6699605, essv6675213, essv6829025, essv6692784, essv6853256
SamplesSSM087, SSM039, SSM032, SSM081, SSM037
Known GenesIFI6
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)esv2745774
Frequency
Sample Size96
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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