A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2725225



Internal ID10308861
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:45789269..45789806hg38UCSC Ensembl
Outerchr3:45830761..45831298hg19UCSC Ensembl
Cytoband3p21.31
Allele length
AssemblyAllele length
hg38538
hg19538
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6753620, essv6955709, essv6881609, essv6921462, essv6968545, essv6739310, essv6951129, essv6821700
SamplesSSM008, SSM079, SSM028, SSM026, SSM003, SSM025, SSM052, SSM012
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)esv2725225
Frequency
Sample Size96
Observed Gain0
Observed Loss8
Observed Complex0
Frequencyn/a


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