A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14416058



Internal ID1198067
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:25494286..25501874hg38UCSC Ensembl
Innerchr12:25494302..25501859hg38UCSC Ensembl
Outerchr12:25494271..25501890hg38UCSC Ensembl
chr12:25647220..25654808hg19UCSC Ensembl
Innerchr12:25647236..25654793hg19UCSC Ensembl
Outerchr12:25647205..25654824hg19UCSC Ensembl
Cytoband12p12.1
Allele length
AssemblyAllele length
hg387589
hg197589
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3628898
Supporting Variants
SamplesHG01070
Known GenesIFLTD1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14416058
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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