A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6955235



Internal ID10064084
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:26655176..26655231hg38UCSC Ensembl
Outerchr2:26878044..26878099hg19UCSC Ensembl
Cytoband2p23.3
Allele length
AssemblyAllele length
hg3856
hg1956
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2719827, esv2719828, esv2719830
Supporting Variants
SamplesSSM026
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)essv6955235
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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