A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2734200



Internal ID9968527
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:30584612..30584674hg38UCSC Ensembl
Outerchr7:30624228..30624290hg19UCSC Ensembl
Cytoband7p14.3
Allele length
AssemblyAllele length
hg3863
hg1963
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6855566
SamplesSSM087
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)esv2734200
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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