A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14438220



Internal ID1213868
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:32394115..32397230hg38UCSC Ensembl
Innerchr12:32394115..32397230hg38UCSC Ensembl
Outerchr12:32393916..32397422hg38UCSC Ensembl
chr12:32547049..32550164hg19UCSC Ensembl
Innerchr12:32547049..32550164hg19UCSC Ensembl
Outerchr12:32546850..32550356hg19UCSC Ensembl
Cytoband12p11.21
Allele length
AssemblyAllele length
hg383116
hg193116
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3629075
Supporting Variants
SamplesHG01080
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14438220
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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