A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2714951



Internal ID9949236
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:94477477..94477987hg38UCSC Ensembl
Outerchr1:94943033..94943543hg19UCSC Ensembl
Cytoband1p21.3
Allele length
AssemblyAllele length
hg38511
hg19511
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6669074, essv6902603, essv6750661, essv6797527, essv6736036, essv6666941, essv6906171
SamplesSSM013, SSM031, SSM072, SSM057, SSM050, SSM030, SSM014
Known GenesABCD3
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)esv2714951
Frequency
Sample Size96
Observed Gain0
Observed Loss7
Observed Complex0
Frequencyn/a


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