A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2731633



Internal ID10315269
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:17602713..17605882hg38UCSC Ensembl
Outerchr6:17602944..17606113hg19UCSC Ensembl
Cytoband6p22.3
Allele length
AssemblyAllele length
hg383170
hg193170
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6959784
SamplesSSM004
Known GenesFAM8A1
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)esv2731633
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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