A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6955351



Internal ID10064188
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:103944022..103944129hg38UCSC Ensembl
Outerchr2:104560480..104560587hg19UCSC Ensembl
Cytoband2q12.1
Allele length
AssemblyAllele length
hg38108
hg19108
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2720468, esv2720469
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)essv6955351
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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