A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6963554



Internal ID10069283
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:1515313..1515373hg38UCSC Ensembl
Outerchr6:1515548..1515608hg19UCSC Ensembl
Cytoband6p25.3
Allele length
AssemblyAllele length
hg3861
hg1961
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2731436, esv2731435
Supporting Variants
SamplesSSM027
Known Genes
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)essv6963554
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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