A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6754635



Internal ID9817261
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:136278842..136282546hg38UCSC Ensembl
Outerchr6:136599980..136603684hg19UCSC Ensembl
Cytoband6q23.3
Allele length
AssemblyAllele length
hg383705
hg193705
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2732759, esv2732755, esv2732757
Supporting Variants
SamplesSSM058
Known GenesBCLAF1
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)essv6754635
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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