A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14371928



Internal ID5508941
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:9940400..9942222hg38UCSC Ensembl
Innerchr12:9940414..9942208hg38UCSC Ensembl
Outerchr12:9940386..9942236hg38UCSC Ensembl
chr12:10092999..10094821hg19UCSC Ensembl
Innerchr12:10093013..10094807hg19UCSC Ensembl
Outerchr12:10092985..10094835hg19UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg381823
hg191823
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3628519
Supporting Variants
SamplesNA18988
Known GenesLOC102467076
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14371928
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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