A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2745840



Internal ID10326810
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:45038481..45038923hg38UCSC Ensembl
Outerchr12:45432264..45432706hg19UCSC Ensembl
Cytoband12q12
Allele length
AssemblyAllele length
hg38443
hg19443
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6888014, essv6677834, essv6709513, essv6920198, essv6959291, essv6724518, essv6783579
SamplesSSM045, SSM041, SSM096, SSM026, SSM017, SSM032, SSM068
Known GenesDBX2
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)esv2745840
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