A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2748021



Internal ID10328991
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr13:110456701..110457443hg38UCSC Ensembl
Outerchr13:111109048..111109790hg19UCSC Ensembl
Cytoband13q34
Allele length
AssemblyAllele length
hg38743
hg19743
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6772279, essv6949302, essv6823852, essv6800435, essv6763515, essv6842651, essv6717011, essv6735334, essv6712432, essv6783774, essv6796240, essv6928099, essv6815636, essv6966149, essv6940560, essv6720900, essv6819973, essv6959628
SamplesSSM071, SSM027, SSM024, SSM079, SSM065, SSM084, SSM062, SSM026, SSM019, SSM044, SSM006, SSM068, SSM072, SSM078, SSM077, SSM022, SSM043, SSM049
Known GenesCOL4A2
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)esv2748021
Frequency
Sample Size96
Observed Gain0
Observed Loss18
Observed Complex0
Frequencyn/a


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