A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6888000



Internal ID9936172
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:24153029..24153268hg38UCSC Ensembl
Outerchr12:24305963..24306202hg19UCSC Ensembl
Cytoband12p12.1
Allele length
AssemblyAllele length
hg38240
hg19240
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2745640
Supporting Variants
SamplesSSM096
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)essv6888000
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