A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6723172



Internal ID9787650
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:30468399..30468563hg38UCSC Ensembl
Outerchr6:30436176..30436340hg19UCSC Ensembl
Cytoband6p21.33
Allele length
AssemblyAllele length
hg38165
hg19165
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2731793, esv2731794, esv2731791
Supporting Variants
SamplesSSM045
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)essv6723172
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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