A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6892831



Internal ID9940344
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:77293167..77293298hg38UCSC Ensembl
Outerchr3:77342318..77342449hg19UCSC Ensembl
Cytoband3p12.3
Allele length
AssemblyAllele length
hg38132
hg19132
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2725537, esv2725536
Supporting Variants
SamplesSSM098
Known GenesROBO2
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)essv6892831
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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