A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6746083



Internal ID9808703
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:3708103..3708893hg38UCSC Ensembl
Outerchr7:3747735..3748525hg19UCSC Ensembl
Cytoband7p22.2
Allele length
AssemblyAllele length
hg38791
hg19791
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2733876, esv2733877
Supporting Variants
SamplesSSM055
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)essv6746083
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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