A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6973127



Internal ID10078341
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:169603400..169603520hg38UCSC Ensembl
Outerchr2:170459910..170460030hg19UCSC Ensembl
Cytoband2q31.1
Allele length
AssemblyAllele length
hg38121
hg19121
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2721115, esv2721116
Supporting Variants
SamplesSSM029
Known GenesPPIG
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)essv6973127
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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