A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6730844



Internal ID9794554
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:30451172..30463941hg38UCSC Ensembl
Outerchr6:30418949..30431718hg19UCSC Ensembl
Cytoband6p21.33
Allele length
AssemblyAllele length
hg3812770
hg1912770
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2731791, esv2731792
Supporting Variants
SamplesSSM047
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)essv6730844
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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