A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6685088



Internal ID10100225
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:30869904..30870142hg38UCSC Ensembl
Outerchr12:31022838..31023076hg19UCSC Ensembl
Cytoband12p11.21
Allele length
AssemblyAllele length
hg38239
hg19239
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2745710
Supporting Variants
SamplesSSM034
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)essv6685088
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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