A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6949343



Internal ID9708212
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr13:113830506..113830913hg38UCSC Ensembl
Outerchr13:114533479..114533886hg19UCSC Ensembl
Cytoband13q34
Allele length
AssemblyAllele length
hg38408
hg19408
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2748400, esv2748398
Supporting Variants
SamplesSSM024
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)essv6949343
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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