A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14567990



Internal ID2460969
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:91321660..91327208hg38UCSC Ensembl
Innerchr12:91321660..91327208hg38UCSC Ensembl
Outerchr12:91321160..91327708hg38UCSC Ensembl
chr12:91715437..91720985hg19UCSC Ensembl
Innerchr12:91715437..91720985hg19UCSC Ensembl
Outerchr12:91714937..91721485hg19UCSC Ensembl
Cytoband12q21.33
Allele length
AssemblyAllele length
hg385549
hg195549
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3630356
Supporting Variants
SamplesHG02165
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14567990
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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