A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2670903



Internal ID9937008
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:56760664..56766815hg38UCSC Ensembl
chr3:56794692..56800843hg19UCSC Ensembl
Cytoband3p14.3
Allele length
AssemblyAllele length
hg386152
hg196152
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5739626, essv6009219, essv6093566
SamplesHG00189, HG00318, HG00282
Known GenesARHGEF3
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2670903
Frequency
Sample Size1151
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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