A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2744624



Internal ID10325594
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:64500842..64501048hg38UCSC Ensembl
Outerchr11:64268314..64268520hg19UCSC Ensembl
Cytoband11q13.1
Allele length
AssemblyAllele length
hg38207
hg19207
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6857023, essv6775599, essv6732015, essv6681468, essv6959087, essv6771951, essv6965604
SamplesSSM027, SSM065, SSM087, SSM047, SSM026, SSM033, SSM066
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)esv2744624
Frequency
Sample Size96
Observed Gain0
Observed Loss7
Observed Complex0
Frequencyn/a


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