A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14420200



Internal ID2880943
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:28068093..28069219hg38UCSC Ensembl
Innerchr12:28068117..28069196hg38UCSC Ensembl
Outerchr12:28068070..28069243hg38UCSC Ensembl
chr12:28221026..28222152hg19UCSC Ensembl
Innerchr12:28221050..28222129hg19UCSC Ensembl
Outerchr12:28221003..28222176hg19UCSC Ensembl
Cytoband12p11.22
Allele length
AssemblyAllele length
hg381127
hg191127
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3628958
Supporting Variants
SamplesHG02555
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14420200
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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