A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6796280



Internal ID9852095
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr13:113830513..113830916hg38UCSC Ensembl
Outerchr13:114533486..114533889hg19UCSC Ensembl
Cytoband13q34
Allele length
AssemblyAllele length
hg38404
hg19404
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2748400, esv2748398
Supporting Variants
SamplesSSM071
Known GenesGAS6, GAS6-AS1
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)essv6796280
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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