A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2660849



Internal ID9580268
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:3009865..3013682hg38UCSC Ensembl
Outerchr3:3009828..3013732hg38UCSC Ensembl
Innerchr3:3051549..3055366hg19UCSC Ensembl
Outerchr3:3051512..3055416hg19UCSC Ensembl
Cytoband3p26.2
Allele length
AssemblyAllele length
hg383905
hg193905
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5502082, essv5750629, essv6308012, essv5605228, essv5661851
SamplesHG00177, HG00269, HG00176, NA12272, HG00281
Known GenesCNTN4
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2660849
Frequency
Sample Size1151
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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