A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6934894



Internal ID10043737
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:168459824..168460003hg38UCSC Ensembl
Outerchr6:168860504..168860683hg19UCSC Ensembl
Cytoband6q27
Allele length
AssemblyAllele length
hg38180
hg19180
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2733363
Supporting Variants
SamplesSSM021
Known GenesSMOC2
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)essv6934894
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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