A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2733238



Internal ID9967561
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:167402679..167402871hg38UCSC Ensembl
Outerchr6:167816167..167816359hg19UCSC Ensembl
Cytoband6q27
Allele length
AssemblyAllele length
hg38193
hg19193
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6770951, essv6957253, essv6855437, essv6943598, essv6679877, essv6731011, essv6786530, essv6711971, essv6837571, essv6794800, essv6887126, essv6814456
SamplesSSM083, SSM071, SSM065, SSM087, SSM042, SSM023, SSM047, SSM069, SSM096, SSM026, SSM005, SSM077
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)esv2733238
Frequency
Sample Size96
Observed Gain0
Observed Loss12
Observed Complex0
Frequencyn/a


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