A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6857595



Internal ID9908634
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr13:113829018..113829234hg38UCSC Ensembl
Outerchr13:114531991..114532207hg19UCSC Ensembl
Cytoband13q34
Allele length
AssemblyAllele length
hg38217
hg19217
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2748396, esv2748394, esv2748393
Supporting Variants
SamplesSSM087
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)essv6857595
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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