A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2746365



Internal ID9980649
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:112323661..112324367hg38UCSC Ensembl
Outerchr12:112761465..112762171hg19UCSC Ensembl
Cytoband12q24.13
Allele length
AssemblyAllele length
hg38707
hg19707
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6688350, essv6673251, essv6970869, essv6772742, essv6851297, essv6720756, essv6908952, essv6815524, essv6977316, essv6920249, essv6904966, essv6685144, essv6857303
SamplesSSM013, SSM086, SSM031, SSM035, SSM077, SSM017, SSM028, SSM029, SSM034, SSM087, SSM044, SSM014, SSM008
Known GenesHECTD4
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)esv2746365
Frequency
Sample Size96
Observed Gain0
Observed Loss13
Observed Complex0
Frequencyn/a


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