A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2726049



Internal ID10309685
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:151016958..151017126hg38UCSC Ensembl
Outerchr3:150734745..150734913hg19UCSC Ensembl
Cytoband3q25.1
Allele length
AssemblyAllele length
hg38169
hg19169
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6899116, essv6955857
SamplesSSM100, SSM026
Known GenesCLRN1-AS1
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)esv2726049
Frequency
Sample Size96
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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