A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14621571



Internal ID5417114
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:122906422..122911427hg38UCSC Ensembl
Innerchr12:122906922..122910927hg38UCSC Ensembl
Outerchr12:122905422..122912427hg38UCSC Ensembl
chr12:123390969..123395974hg19UCSC Ensembl
Innerchr12:123391469..123395474hg19UCSC Ensembl
Outerchr12:123389969..123396974hg19UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg385006
hg195006
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3630985
Supporting Variants
SamplesNA18950
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14621571
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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