A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6894719



Internal ID10288728
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:124948694..124948856hg38UCSC Ensembl
Outerchr12:125433240..125433402hg19UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg38163
hg19163
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2746553
Supporting Variants
SamplesSSM098
Known GenesDHX37
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)essv6894719
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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