A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14497697



Internal ID2650089
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 StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3629641
Supporting Variants
SamplesHG02343
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14497697
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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