A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3629539



Internal ID7016360
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:53157539..53158379hg38UCSC Ensembl
Innerchr12:53157539..53158379hg38UCSC Ensembl
Outerchr12:53157243..53158629hg38UCSC Ensembl
chr12:53551323..53552163hg19UCSC Ensembl
Innerchr12:53551323..53552163hg19UCSC Ensembl
Outerchr12:53551027..53552413hg19UCSC Ensembl
Cytoband12q13.13
Allele length
AssemblyAllele length
hg38841
hg19841
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv14483808, essv14483804, essv14483801, essv14483802, essv14483809, essv14483807, essv14483803, essv14483805, essv14483806
SamplesHG02628, HG03583, NA19247, HG03511, HG03088, HG03123, NA19360, HG02013, HG03470
Known GenesCSAD
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3629539
Frequency
Sample Size2504
Observed Gain0
Observed Loss9
Observed Complex0
Frequencyn/a


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