A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2748394



Internal ID9982678
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr13:113828910..113829234hg38UCSC Ensembl
Outerchr13:114531883..114532207hg19UCSC Ensembl
Cytoband13q34
Allele length
AssemblyAllele length
hg38325
hg19325
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6857595, essv6977679, essv6691810, essv6765906, essv6732369, essv6772314, essv6879652, essv6838858, essv6971093
SamplesSSM036, SSM083, SSM065, SSM087, SSM093, SSM028, SSM047, SSM029, SSM063
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)esv2748394
Frequency
Sample Size96
Observed Gain0
Observed Loss9
Observed Complex0
Frequencyn/a


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