A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2669807



Internal ID9935912
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:7518478..7524632hg38UCSC Ensembl
Outerchr12:7518321..7524785hg38UCSC Ensembl
Innerchr12:7671074..7677228hg19UCSC Ensembl
Outerchr12:7670917..7677381hg19UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg386465
hg196465
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5685361, essv6067306
SamplesNA18599, NA18567
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2669807
Frequency
Sample Size1151
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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