A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6727541



Internal ID10138268
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:157264491..157264615hg38UCSC Ensembl
Outerchr7:157057185..157057309hg19UCSC Ensembl
Cytoband7q36.3
Allele length
AssemblyAllele length
hg38125
hg19125
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2735673, esv2735674
Supporting Variants
SamplesSSM046
Known GenesUBE3C
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)essv6727541
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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