A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6670054



Internal ID9740763
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:186071723..186072078hg38UCSC Ensembl
Outerchr3:185789512..185789867hg19UCSC Ensembl
Cytoband3q27.2
Allele length
AssemblyAllele length
hg38356
hg19356
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2726328
Supporting Variants
SamplesSSM031
Known GenesETV5
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)essv6670054
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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