A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14333790



Internal ID4335606
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:1406733..1440028hg38UCSC Ensembl
Innerchr12:1406733..1440028hg38UCSC Ensembl
Outerchr12:1406233..1440528hg38UCSC Ensembl
chr12:1515899..1549194hg19UCSC Ensembl
Innerchr12:1515899..1549194hg19UCSC Ensembl
Outerchr12:1515399..1549694hg19UCSC Ensembl
Cytoband12p13.33
Allele length
AssemblyAllele length
hg3833296
hg1933296
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3628278
Supporting Variants
SamplesNA20876
Known GenesERC1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14333790
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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