A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6964105



Internal ID10070647
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:25602187..25602306hg38UCSC Ensembl
Outerchr7:25641807..25641926hg19UCSC Ensembl
Cytoband7p15.2
Allele length
AssemblyAllele length
hg38120
hg19120
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2734149, esv2734145
Supporting Variants
SamplesSSM027
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)essv6964105
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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