A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6970854



Internal ID10074399
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:93368775..93369129hg38UCSC Ensembl
Outerchr12:93762551..93762905hg19UCSC Ensembl
Cytoband12q22
Allele length
AssemblyAllele length
hg38355
hg19355
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2746216
Supporting Variants
SamplesSSM028
Known GenesLOC643339
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)essv6970854
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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