A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2745616



Internal ID10326586
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:19103848..19104036hg38UCSC Ensembl
Outerchr12:19256782..19256970hg19UCSC Ensembl
Cytoband12p12.3
Allele length
AssemblyAllele length
hg38189
hg19189
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6709489, essv6677807, essv6899332
SamplesSSM041, SSM032, SSM012
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)esv2745616
Frequency
Sample Size96
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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