A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6772564



Internal ID10000655
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:93368481..93369133hg38UCSC Ensembl
Outerchr12:93762257..93762909hg19UCSC Ensembl
Cytoband12q22
Allele length
AssemblyAllele length
hg38653
hg19653
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2746216
Supporting Variants
SamplesSSM008
Known GenesLOC643339
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)essv6772564
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