A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14630192



Internal ID4536475
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:129273805..129309333hg38UCSC Ensembl
Innerchr12:129273805..129309333hg38UCSC Ensembl
Outerchr12:129273305..129309833hg38UCSC Ensembl
chr12:129758350..129793878hg19UCSC Ensembl
Innerchr12:129758350..129793878hg19UCSC Ensembl
Outerchr12:129757850..129794378hg19UCSC Ensembl
Cytoband12q24.33
Allele length
AssemblyAllele length
hg3835529
hg1935529
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3631169
Supporting Variants
SamplesHG04029
Known GenesTMEM132D
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14630192
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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