A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2746359



Internal ID9980643
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:111858562..111859391hg38UCSC Ensembl
Outerchr12:112296366..112297195hg19UCSC Ensembl
Cytoband12q24.12
Allele length
AssemblyAllele length
hg38830
hg19830
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6977314, essv6685143, essv6765817, essv6927981, essv6949149, essv6842494, essv6772102, essv6749736, essv6971873, essv6758275, essv6835377, essv6899899, essv6965872, essv6775762, essv6851295, essv6912670, essv6673250, essv6720755, essv6857302, essv6698796, essv6709558, essv6727042, essv6939596, essv6866331, essv6688349, essv6768545, essv6897707, essv6908950, essv6746904, essv6936200, essv6724561, essv6761034, essv6940404, essv6739009
SamplesSSM010, SSM065, SSM022, SSM007, SSM027, SSM086, SSM055, SSM084, SSM061, SSM099, SSM064, SSM031, SSM035, SSM001, SSM024, SSM045, SSM041, SSM012, SSM056, SSM011, SSM066, SSM029, SSM003, SSM021, SSM034, SSM063, SSM087, SSM038, SSM019, SSM044, SSM004, SSM015, SSM014, SSM059
Known GenesMAPKAPK5
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)esv2746359
Frequency
Sample Size96
Observed Gain0
Observed Loss34
Observed Complex0
Frequencyn/a


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