A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14361802



Internal ID6065782
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:8900424..8901339hg38UCSC Ensembl
Innerchr12:8900424..8901339hg38UCSC Ensembl
Outerchr12:8900111..8901680hg38UCSC Ensembl
chr12:9053020..9053935hg19UCSC Ensembl
Innerchr12:9053020..9053935hg19UCSC Ensembl
Outerchr12:9052707..9054276hg19UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg38916
hg19916
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3628487
Supporting Variants
SamplesNA19456
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14361802
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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