A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2726330



Internal ID9960637
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:186113345..186113712hg38UCSC Ensembl
Outerchr3:185831134..185831501hg19UCSC Ensembl
Cytoband3q27.2
Allele length
AssemblyAllele length
hg38368
hg19368
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6973622, essv6922451, essv6789835, essv6938343, essv6955895, essv6848111
SamplesSSM018, SSM029, SSM026, SSM086, SSM022, SSM070
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)esv2726330
Frequency
Sample Size96
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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