A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6849322



Internal ID10247871
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:158704900..158705033hg38UCSC Ensembl
Outerchr6:159125932..159126065hg19UCSC Ensembl
Cytoband6q25.3
Allele length
AssemblyAllele length
hg38134
hg19134
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2733005, esv2733007, esv2733003, esv2733012, esv2733004, esv2733010, esv2733008, esv2733009, esv2733011
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)essv6849322
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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