A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2721535



Internal ID9955831
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:225018455..225018693hg38UCSC Ensembl
Outerchr2:225883172..225883410hg19UCSC Ensembl
Cytoband2q36.2
Allele length
AssemblyAllele length
hg38239
hg19239
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6817141, essv6906604, essv6859753, essv6877997, essv6825495, essv6889415, essv6962307, essv6711027, essv6785496, essv6955545
SamplesSSM027, SSM042, SSM078, SSM088, SSM097, SSM093, SSM069, SSM026, SSM014, SSM080
Known GenesDOCK10
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)esv2721535
Frequency
Sample Size96
Observed Gain0
Observed Loss10
Observed Complex0
Frequencyn/a


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