A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6938684



Internal ID9988688
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:7842517..7958752hg38UCSC Ensembl
Outerchr12:7995113..8111348hg19UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg38116236
hg19116236
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2745495
Supporting Variants
SamplesSSM003
Known GenesSLC2A14, SLC2A3
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)essv6938684
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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