A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2748349



Internal ID10329319
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr13:113670392..113670927hg38UCSC Ensembl
Outerchr13:114324707..114325242hg19UCSC Ensembl
Cytoband13q34
Allele length
AssemblyAllele length
hg38536
hg19536
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6827970, essv6779686, essv6713212, essv6920456, essv6702696, essv6792098, essv6838851, essv6815664, essv6695815, essv6720931, essv6977675, essv6709700, essv6940589, essv6772312, essv6842691
SamplesSSM083, SSM065, SSM039, SSM042, SSM041, SSM084, SSM029, SSM017, SSM067, SSM044, SSM080, SSM037, SSM077, SSM022, SSM070
Known GenesGRK1
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)esv2748349
Frequency
Sample Size96
Observed Gain0
Observed Loss15
Observed Complex0
Frequencyn/a


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