A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2725226



Internal ID10308862
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:45789429..45789607hg38UCSC Ensembl
Outerchr3:45830921..45831099hg19UCSC Ensembl
Cytoband3p21.31
Allele length
AssemblyAllele length
hg38179
hg19179
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6955709, essv6921462, essv6968545, essv6951129, essv6821700
SamplesSSM079, SSM028, SSM026, SSM003, SSM025
Known GenesSLC6A20
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)esv2725226
Frequency
Sample Size96
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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