A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2733337



Internal ID9967660
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:168296053..168296147hg38UCSC Ensembl
Outerchr6:168696733..168696827hg19UCSC Ensembl
Cytoband6q27
Allele length
AssemblyAllele length
hg3895
hg1995
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6865769, essv6957264
SamplesSSM026, SSM089
Known GenesDACT2
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)esv2733337
Frequency
Sample Size96
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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