A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6685144



Internal ID9753787
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:112324008..112324146hg38UCSC Ensembl
Outerchr12:112761812..112761950hg19UCSC Ensembl
Cytoband12q24.13
Allele length
AssemblyAllele length
hg38139
hg19139
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2746368, esv2746365, esv2746366
Supporting Variants
SamplesSSM034
Known GenesHECTD4
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)essv6685144
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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