A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6144751



Internal ID9656457
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:8900530..8901351hg38UCSC Ensembl
Outerchr12:8900373..8901504hg38UCSC Ensembl
Innerchr12:9053126..9053947hg19UCSC Ensembl
Outerchr12:9052969..9054100hg19UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg381132
hg191132
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2669213
Supporting Variants
SamplesNA19385
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv6144751
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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