A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6851250



Internal ID10249607
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:78803779..78804028hg38UCSC Ensembl
Outerchr12:79197559..79197808hg19UCSC Ensembl
Cytoband12q21.2
Allele length
AssemblyAllele length
hg38250
hg19250
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2746103, esv2746104, esv2746106
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)essv6851250
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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