A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6822650



Internal ID9877181
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:28534709..28535472hg38UCSC Ensembl
Outerchr7:28574327..28575090hg19UCSC Ensembl
Cytoband7p15.1
Allele length
AssemblyAllele length
hg38764
hg19764
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2734175
Supporting Variants
SamplesSSM079
Known GenesCREB5
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)essv6822650
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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