A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6828309



Internal ID9659957
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:101034363..101036428hg38UCSC Ensembl
Outerchr7:100677644..100679709hg19UCSC Ensembl
Cytoband7q22.1
Allele length
AssemblyAllele length
hg382066
hg192066
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2734914, esv2734888, esv2734913
Supporting Variants
SamplesSSM010
Known GenesMUC17
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)essv6828309
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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