A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3629641



Internal ID7016462
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:59114269..59122827hg38UCSC Ensembl
Innerchr12:59114276..59122821hg38UCSC Ensembl
Outerchr12:59114263..59122834hg38UCSC Ensembl
chr12:59508050..59516608hg19UCSC Ensembl
Innerchr12:59508057..59516602hg19UCSC Ensembl
Outerchr12:59508044..59516615hg19UCSC Ensembl
Cytoband12q14.1
Allele length
AssemblyAllele length
hg388559
hg198559
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv14497697
SamplesHG02343
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3629641
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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