A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6973543



Internal ID10077968
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:127009747..127010611hg38UCSC Ensembl
Outerchr3:126728590..126729454hg19UCSC Ensembl
Cytoband3q21.3
Allele length
AssemblyAllele length
hg38865
hg19865
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2725882
Supporting Variants
SamplesSSM029
Known GenesPLXNA1
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)essv6973543
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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