A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2745734



Internal ID9980018
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:32253493..32254441hg38UCSC Ensembl
Outerchr12:32406427..32407375hg19UCSC Ensembl
Cytoband12p11.21
Allele length
AssemblyAllele length
hg38949
hg19949
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv181e201
Supporting Variantsessv6752572, essv6959270, essv6897657, essv6691608, essv6772065, essv6865687, essv6876668, essv6842444, essv6977189, essv6823625, essv6940345, essv6791861, essv6741073, essv6819696, essv6681579, essv6857206, essv6916130, essv6815473, essv6944959
SamplesSSM036, SSM008, SSM011, SSM079, SSM087, SSM057, SSM023, SSM092, SSM084, SSM029, SSM026, SSM033, SSM078, SSM016, SSM077, SSM022, SSM070, SSM099, SSM052
Known GenesBICD1
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)esv2745734
Frequency
Sample Size96
Observed Gain0
Observed Loss19
Observed Complex0
Frequencyn/a


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