A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2719635



Internal ID10303271
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:10200312..10200775hg38UCSC Ensembl
Outerchr2:10340438..10340901hg19UCSC Ensembl
Cytoband2p25.1
Allele length
AssemblyAllele length
hg38464
hg19464
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6864284, essv6789462, essv6972830, essv6718427, essv6961981, essv6859495, essv6816897, essv6917715, essv6810530, essv6846176, essv6955202, essv6707512, essv6853636
SamplesSSM027, SSM011, SSM087, SSM088, SSM041, SSM029, SSM026, SSM089, SSM017, SSM044, SSM078, SSM076, SSM070
Known GenesC2orf48
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)esv2719635
Frequency
Sample Size96
Observed Gain0
Observed Loss13
Observed Complex0
Frequencyn/a


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