A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6689596



Internal ID9757297
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:106263025..106269442hg38UCSC Ensembl
Outerchr2:106879481..106885898hg19UCSC Ensembl
Cytoband2q12.2
Allele length
AssemblyAllele length
hg386418
hg196418
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2720482, esv2720485
Supporting Variants
SamplesSSM036
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)essv6689596
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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