A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2731964



Internal ID10315600
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:40134244..40134639hg38UCSC Ensembl
Outerchr6:40101983..40102378hg19UCSC Ensembl
Cytoband6p21.2
Allele length
AssemblyAllele length
hg38396
hg19396
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6961318, essv6957013, essv6896775, essv6934728, essv6697915, essv6939025
SamplesSSM038, SSM021, SSM026, SSM022, SSM004, SSM099
Known Genes
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)esv2731964
Frequency
Sample Size96
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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