A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2670062



Internal ID9936167
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:34883655..34884589hg38UCSC Ensembl
chr1:35349256..35350190hg19UCSC Ensembl
Cytoband1p34.3
Allele length
AssemblyAllele length
hg38935
hg19935
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5435767, essv5776346, essv5881498
SamplesHG01052, NA19982, NA19429
Known GenesDLGAP3
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2670062
Frequency
Sample Size1151
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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