A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2733620



Internal ID10317256
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:511112..511463hg38UCSC Ensembl
Outerchr7:550749..551100hg19UCSC Ensembl
Cytoband7p22.3
Allele length
AssemblyAllele length
hg38352
hg19352
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6694360, essv6774746
SamplesSSM066, SSM037
Known GenesPDGFA
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)esv2733620
Frequency
Sample Size96
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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