A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2733878



Internal ID9968203
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:3708225..3708530hg38UCSC Ensembl
Outerchr7:3747857..3748162hg19UCSC Ensembl
Cytoband7p22.2
Allele length
AssemblyAllele length
hg38306
hg19306
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6861084, essv6684158
SamplesSSM088, SSM034
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)esv2733878
Frequency
Sample Size96
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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