A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6879654



Internal ID9928486
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr13:113830429..113830651hg38UCSC Ensembl
Outerchr13:114533402..114533624hg19UCSC Ensembl
Cytoband13q34
Allele length
AssemblyAllele length
hg38223
hg19223
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2748399, esv2748398
Supporting Variants
SamplesSSM093
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)essv6879654
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer