A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6849323



Internal ID10247872
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:158704900..158705325hg38UCSC Ensembl
Outerchr6:159125932..159126357hg19UCSC Ensembl
Cytoband6q25.3
Allele length
AssemblyAllele length
hg38426
hg19426
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2733005, esv2733012, esv2733010, esv2733008
Supporting Variants
SamplesSSM086
Known GenesSYTL3
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)essv6849323
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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