A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14483870



Internal ID3829429
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:53634890..53637050hg38UCSC Ensembl
Innerchr12:53634932..53637008hg38UCSC Ensembl
Outerchr12:53634848..53637092hg38UCSC Ensembl
chr12:54028674..54030834hg19UCSC Ensembl
Innerchr12:54028716..54030792hg19UCSC Ensembl
Outerchr12:54028632..54030876hg19UCSC Ensembl
Cytoband12q13.13
Allele length
AssemblyAllele length
hg382161
hg192161
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3629545
Supporting Variants
SamplesHG03469
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14483870
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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