A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14535411



Internal ID5057948
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:73860484..73913354hg38UCSC Ensembl
Innerchr12:73860512..73913327hg38UCSC Ensembl
Outerchr12:73860457..73913382hg38UCSC Ensembl
chr12:74254264..74307134hg19UCSC Ensembl
Innerchr12:74254292..74307107hg19UCSC Ensembl
Outerchr12:74254237..74307162hg19UCSC Ensembl
Cytoband12q21.1
Allele length
AssemblyAllele length
hg3852871
hg1952871
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3629969
Supporting Variants
SamplesNA18534
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14535411
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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