A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6727366



Internal ID9791425
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:55904091..55904480hg38UCSC Ensembl
Outerchr7:55971784..55972173hg19UCSC Ensembl
Cytoband7p11.2
Allele length
AssemblyAllele length
hg38390
hg19390
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2734452, esv2734425, esv2734448, esv2734447
Supporting Variants
SamplesSSM046
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)essv6727366
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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