A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6965898



Internal ID9723471
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:124373308..124373400hg38UCSC Ensembl
Outerchr12:124857854..124857946hg19UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg3893
hg1993
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2746534, esv2746533, esv2746535, esv2746532
Supporting Variants
SamplesSSM027
Known GenesNCOR2
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)essv6965898
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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