A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2733591



Internal ID10317227
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:170236595..170237443hg38UCSC Ensembl
Outerchr6:170546385..170546801hg19UCSC Ensembl
Cytoband6q27
Allele length
AssemblyAllele length
hg38849
hg19417
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6805574, essv6849385, essv6767671, essv6964018, essv6966261, essv6808561, essv6727284, essv6865786, essv6786580, essv6748880
SamplesSSM027, SSM075, SSM046, SSM064, SSM074, SSM069, SSM089, SSM001, SSM086, SSM056
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)esv2733591
Frequency
Sample Size96
Observed Gain0
Observed Loss10
Observed Complex0
Frequencyn/a


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