A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14430126



Internal ID5173185
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:30462635..30463345hg38UCSC Ensembl
Innerchr12:30462637..30463344hg38UCSC Ensembl
Outerchr12:30462634..30463347hg38UCSC Ensembl
chr12:30615568..30616278hg19UCSC Ensembl
Innerchr12:30615570..30616277hg19UCSC Ensembl
Outerchr12:30615567..30616280hg19UCSC Ensembl
Cytoband12p11.22
Allele length
AssemblyAllele length
hg38711
hg19711
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3629016
Supporting Variants
SamplesNA18602
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14430126
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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