A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2725093



Internal ID10308729
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:31502132..31502444hg38UCSC Ensembl
Outerchr3:31543624..31543936hg19UCSC Ensembl
Cytoband3p23
Allele length
AssemblyAllele length
hg38313
hg19313
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6847875, essv6864632, essv6833072
SamplesSSM089, SSM086, SSM082
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)esv2725093
Frequency
Sample Size96
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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