A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2733884



Internal ID10317520
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:3954069..3954330hg38UCSC Ensembl
Outerchr7:3993701..3993962hg19UCSC Ensembl
Cytoband7p22.2
Allele length
AssemblyAllele length
hg38262
hg19262
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6948014, essv6903904, essv6878748, essv6790718, essv6799072, essv6926990
SamplesSSM024, SSM013, SSM093, SSM019, SSM072, SSM070
Known GenesSDK1
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)esv2733884
Frequency
Sample Size96
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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