A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2720009



Internal ID9954305
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:45415161..45415288hg38UCSC Ensembl
Outerchr2:45642300..45642427hg19UCSC Ensembl
Cytoband2p21
Allele length
AssemblyAllele length
hg38128
hg19128
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6847496, essv6955270, essv6859528, essv6669460, essv6962030, essv6864325
SamplesSSM027, SSM086, SSM088, SSM089, SSM031, SSM026
Known GenesSRBD1
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)esv2720009
Frequency
Sample Size96
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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