A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2726250



Internal ID9960556
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:178759305..178759478hg38UCSC Ensembl
Outerchr3:178477093..178477266hg19UCSC Ensembl
Cytoband3q26.32
Allele length
AssemblyAllele length
hg38174
hg19174
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6718769
SamplesSSM044
Known GenesKCNMB2
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)esv2726250
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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