A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3629507



Internal ID6669646
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 State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv14481114, essv14481096, essv14481107, essv14481098, essv14481097, essv14481115, essv14481105, essv14481095, essv14481111, essv14481117, essv14481101, essv14481119, essv14481112, essv14481109, essv14481093, essv14481104, essv14481113, essv14481094, essv14481102, essv14481110, essv14481099, essv14481103, essv14481121, essv14481106, essv14481116, essv14481108, essv14481120, essv14481100, essv14481118
SamplesNA19466, NA19378, HG02433, HG03449, HG03521, NA19098, HG03099, HG02489, NA19445, HG02879, HG02977, NA19152, HG02449, HG03311, HG03446, NA19099, HG02332, NA19095, HG01990, HG02455, HG02282, NA19019, HG01551, HG03433, HG02274, HG02317, NA20289, NA19463, NA19429
Known GenesSCN8A
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3629507
Frequency
Sample Size2504
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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