A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2727807



Internal ID10311443
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:247471418..247471870hg38UCSC Ensembl
Outerchr1:247634720..247635172hg19UCSC Ensembl
Cytoband1q44
Allele length
AssemblyAllele length
hg38453
hg19453
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6864219, essv6886149, essv6793530, essv6825208
SamplesSSM071, SSM096, SSM089, SSM080
Known Genes
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)esv2727807
Frequency
Sample Size96
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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