A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2672200



Internal ID9591619
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:150662864..150664452hg38UCSC Ensembl
Outerchr3:150662694..150664639hg38UCSC Ensembl
Innerchr3:150380651..150382239hg19UCSC Ensembl
Outerchr3:150380481..150382426hg19UCSC Ensembl
Cytoband3q25.1
Allele length
AssemblyAllele length
hg381946
hg191946
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5469529
SamplesHG00232
Known GenesFAM194A
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2672200
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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