A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6847109



Internal ID10009397
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:119659637..119660908hg38UCSC Ensembl
Outerchr2:120417213..120418484hg19UCSC Ensembl
Cytoband2q14.2
Allele length
AssemblyAllele length
hg381272
hg191272
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2720643
Supporting Variants
SamplesSSM011
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)essv6847109
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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