A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14450559



Internal ID4452375
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:39765165..39765875hg38UCSC Ensembl
Innerchr12:39765168..39765873hg38UCSC Ensembl
Outerchr12:39765163..39765878hg38UCSC Ensembl
chr12:40158967..40159677hg19UCSC Ensembl
Innerchr12:40158970..40159675hg19UCSC Ensembl
Outerchr12:40158965..40159680hg19UCSC Ensembl
Cytoband12q12
Allele length
AssemblyAllele length
hg38711
hg19711
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3629273
Supporting Variants
SamplesHG04229
Known GenesSLC2A13
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14450559
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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