A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2721765



Internal ID10305401
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:238296091..238296620hg38UCSC Ensembl
Outerchr2:239204732..239205261hg19UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg38530
hg19530
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv639e201
Supporting Variantsessv6707686, essv6896178, essv6864561, essv6864562, essv6859780
SamplesSSM088, SSM041, SSM089, SSM099
Known Genes
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)esv2721765
Frequency
Sample Size96
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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