A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2725961



Internal ID10309597
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:137778590..137779075hg38UCSC Ensembl
Outerchr3:137497432..137497917hg19UCSC Ensembl
Cytoband3q22.3
Allele length
AssemblyAllele length
hg38486
hg19486
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6962557, essv6774021, essv6922405
SamplesSSM027, SSM018, SSM066
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)esv2725961
Frequency
Sample Size96
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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