A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14419464



Internal ID4476722
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:27872996..27889243hg38UCSC Ensembl
Innerchr12:27873496..27888743hg38UCSC Ensembl
Outerchr12:27871996..27890243hg38UCSC Ensembl
chr12:28025929..28042176hg19UCSC Ensembl
Innerchr12:28026429..28041676hg19UCSC Ensembl
Outerchr12:28024929..28043176hg19UCSC Ensembl
Cytoband12p11.22
Allele length
AssemblyAllele length
hg3816248
hg1916248
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3628951
Supporting Variants
SamplesHG03977
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14419464
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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