A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2668802



Internal ID9588221
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:32401581..32407003hg38UCSC Ensembl
Outerchr12:32401424..32407159hg38UCSC Ensembl
Innerchr12:32554515..32559937hg19UCSC Ensembl
Outerchr12:32554358..32560093hg19UCSC Ensembl
Cytoband12p11.21
Allele length
AssemblyAllele length
hg385736
hg195736
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6263780, essv5415036
SamplesNA19462, NA19360
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2668802
Frequency
Sample Size1151
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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