A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6705213



Internal ID9771487
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:3708049..3708835hg38UCSC Ensembl
Outerchr7:3747681..3748467hg19UCSC Ensembl
Cytoband7p22.2
Allele length
AssemblyAllele length
hg38787
hg19787
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2733876, esv2733877
Supporting Variants
SamplesSSM040
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)essv6705213
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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