A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14416583



Internal ID6249992
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:25779209..25787086hg38UCSC Ensembl
Innerchr12:25779209..25787086hg38UCSC Ensembl
Outerchr12:25778709..25787586hg38UCSC Ensembl
chr12:25932143..25940020hg19UCSC Ensembl
Innerchr12:25932143..25940020hg19UCSC Ensembl
Outerchr12:25931643..25940520hg19UCSC Ensembl
Cytoband12p12.1
Allele length
AssemblyAllele length
hg387878
hg197878
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3628908
Supporting Variants
SamplesNA19774
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14416583
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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