A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14481116



Internal ID5964749
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:51604262..51605154hg38UCSC Ensembl
Innerchr12:51604414..51605002hg38UCSC Ensembl
Outerchr12:51604110..51605306hg38UCSC Ensembl
chr12:51998046..51998938hg19UCSC Ensembl
Innerchr12:51998198..51998786hg19UCSC Ensembl
Outerchr12:51997894..51999090hg19UCSC Ensembl
Cytoband12q13.13
Allele length
AssemblyAllele length
hg38893
hg19893
Variant TypeOTHER inversion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3629507
Supporting Variants
SamplesNA19378
Known GenesSCN8A
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14481116
Frequency
Sample Size2504
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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