A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6879545



Internal ID10275074
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:103899625..103899953hg38UCSC Ensembl
Outerchr12:104293403..104293731hg19UCSC Ensembl
Cytoband12q23.3
Allele length
AssemblyAllele length
hg38329
hg19329
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2746299
Supporting Variants
SamplesSSM093
Known GenesGNN
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)essv6879545
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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