A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3629492



Internal ID7016314
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:50863663..50864865hg38UCSC Ensembl
Innerchr12:50863667..50864861hg38UCSC Ensembl
Outerchr12:50863659..50864869hg38UCSC Ensembl
chr12:51257446..51258648hg19UCSC Ensembl
Innerchr12:51257450..51258644hg19UCSC Ensembl
Outerchr12:51257442..51258652hg19UCSC Ensembl
Cytoband12q13.12
Allele length
AssemblyAllele length
hg381203
hg191203
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv14479975
SamplesHG02107
Known GenesTMPRSS12
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3629492
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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