A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6730398



Internal ID9998083
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:26208552..26211989hg38UCSC Ensembl
Outerchr7:26248172..26251609hg19UCSC Ensembl
Cytoband7p15.2
Allele length
AssemblyAllele length
hg383438
hg193438
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2734159
Supporting Variants
SamplesSSM007
Known GenesCBX3
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)essv6730398
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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