A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6888134



Internal ID10282979
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr13:78020039..78020327hg38UCSC Ensembl
Outerchr13:78594174..78594462hg19UCSC Ensembl
Cytoband13q22.3
Allele length
AssemblyAllele length
hg38289
hg19289
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2747698
Supporting Variants
SamplesSSM096
Known GenesLINC00446
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)essv6888134
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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