A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2745391



Internal ID9979675
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:1371326..1372012hg38UCSC Ensembl
Outerchr12:1480492..1481178hg19UCSC Ensembl
Cytoband12p13.33
Allele length
AssemblyAllele length
hg38687
hg19687
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6842391, essv6741032, essv6940287, essv6724453, essv6749646, essv6760937
SamplesSSM022, SSM084, SSM061, SSM045, SSM056, SSM052
Known GenesERC1
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)esv2745391
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