A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6336401



Internal ID9629400
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:19605689..19619390hg38UCSC Ensembl
Outerchr12:19605652..19619440hg38UCSC Ensembl
Innerchr12:19758623..19772324hg19UCSC Ensembl
Outerchr12:19758586..19772374hg19UCSC Ensembl
Cytoband12p12.3
Allele length
AssemblyAllele length
hg3813789
hg1913789
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv2662281
Supporting Variants
SamplesNA19350
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv6336401
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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