A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6779456



Internal ID9838306
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:24307527..24307734hg38UCSC Ensembl
Outerchr12:24460461..24460668hg19UCSC Ensembl
Cytoband12p12.1
Allele length
AssemblyAllele length
hg38208
hg19208
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2745645, esv2745646
Supporting Variants
SamplesSSM067
Known GenesSOX5
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)essv6779456
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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