A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2746248



Internal ID10327218
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:96978466..96978852hg38UCSC Ensembl
Outerchr12:97372244..97372630hg19UCSC Ensembl
Cytoband12q23.1
Allele length
AssemblyAllele length
hg38387
hg19387
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6945016, essv6924404, essv6842483, essv6827762, essv6806426, essv6688344, essv6732180, essv6815519, essv6959352, essv6738920, essv6803552, essv6876706, essv6894697, essv6702513
SamplesSSM039, SSM073, SSM074, SSM023, SSM092, SSM084, SSM047, SSM018, SSM026, SSM035, SSM007, SSM080, SSM077, SSM098
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)esv2746248
Frequency
Sample Size96
Observed Gain0
Observed Loss14
Observed Complex0
Frequencyn/a


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