A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6974853



Internal ID10083103
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:73446481..73446968hg38UCSC Ensembl
Outerchr6:74156204..74156691hg19UCSC Ensembl
Cytoband6q13
Allele length
AssemblyAllele length
hg38488
hg19488
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2732293
Supporting Variants
SamplesSSM029
Known GenesMB21D1
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)essv6974853
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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