A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2675975



Internal ID9942080
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:32487574..32494640hg38UCSC Ensembl
Outerchr12:32487537..32494690hg38UCSC Ensembl
Innerchr12:32640508..32647574hg19UCSC Ensembl
Outerchr12:32640471..32647624hg19UCSC Ensembl
Cytoband12p11.21
Allele length
AssemblyAllele length
hg387154
hg197154
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5752188
SamplesNA20756
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2675975
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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