A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2750386



Internal ID3298338
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:2601546..2680037hg38UCSC Ensembl
Outerchr16:2651547..2730038hg19UCSC Ensembl
Cytoband16p13.3
Allele length
AssemblyAllele length
hg3878492
hg1978492
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6688658, essv6869887, essv6871085, essv6713401, essv6909334, essv6891667, essv6867753, essv6809746
SamplesSSM042, SSM089, SSM090, SSM035, SSM097, SSM011, SSM075, SSM014
Known GenesERVK13-1, FLJ42627, LOC652276, PDPK1
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)esv2750386
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