A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2733237



Internal ID9967560
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:167392687..167393104hg38UCSC Ensembl
Outerchr6:167806175..167806592hg19UCSC Ensembl
Cytoband6q27
Allele length
AssemblyAllele length
hg38418
hg19418
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6957252, essv6947946, essv6887125, essv6869888, essv6915184, essv6805557, essv6943597, essv6939168
SamplesSSM024, SSM074, SSM023, SSM090, SSM096, SSM026, SSM016, SSM022
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)esv2733237
Frequency
Sample Size96
Observed Gain0
Observed Loss8
Observed Complex0
Frequencyn/a


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