A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2725189



Internal ID10308825
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:40712200..40712931hg38UCSC Ensembl
Outerchr3:40753691..40754422hg19UCSC Ensembl
Cytoband3p22.1
Allele length
AssemblyAllele length
hg38732
hg19732
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6947055, essv6733839, essv6847895
SamplesSSM024, SSM086, SSM049
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)esv2725189
Frequency
Sample Size96
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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