A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6831414



Internal ID10231754
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:132730136..132730583hg38UCSC Ensembl
Outerchr12:133306722..133307169hg19UCSC Ensembl
Cytoband12q24.33
Allele length
AssemblyAllele length
hg38448
hg19448
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2747035
Supporting Variants
SamplesSSM081
Known GenesANKLE2
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)essv6831414
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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