A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6847653



Internal ID10246370
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:150249769..150249822hg38UCSC Ensembl
Outerchr2:151106283..151106336hg19UCSC Ensembl
Cytoband2q23.3
Allele length
AssemblyAllele length
hg3854
hg1954
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2720950, esv2720948, esv2720949
Supporting Variants
SamplesSSM086
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)essv6847653
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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