A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2747344



Internal ID9981628
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr13:45377870..45382050hg38UCSC Ensembl
Outerchr13:45952005..45956185hg19UCSC Ensembl
Cytoband13q14.13
Allele length
AssemblyAllele length
hg384181
hg194181
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv222e201
Supporting Variantsessv6920364, essv6823782, essv6796172, essv6720828, essv6713136, essv6783716, essv6827879, essv6838763, essv6900739, essv6779601, essv6894789, essv6724640
SamplesSSM100, SSM083, SSM071, SSM045, SSM079, SSM042, SSM017, SSM067, SSM044, SSM068, SSM080, SSM098
Known GenesTPT1-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)esv2747344
Frequency
Sample Size96
Observed Gain0
Observed Loss12
Observed Complex0
Frequencyn/a


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