A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6845963



Internal ID10244849
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:45038443..45038861hg38UCSC Ensembl
Outerchr12:45432226..45432644hg19UCSC Ensembl
Cytoband12q12
Allele length
AssemblyAllele length
hg38419
hg19419
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2745839
Supporting Variants
SamplesSSM085
Known GenesDBX2
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)essv6845963
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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