A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2674107



Internal ID9940212
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:213718281..213721773hg38UCSC Ensembl
chr2:214583005..214586497hg19UCSC Ensembl
Cytoband2q34
Allele length
AssemblyAllele length
hg383493
hg193493
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5819546, essv6328440, essv5512031
SamplesHG01441, HG00232, NA20826
Known GenesSPAG16
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2674107
Frequency
Sample Size1151
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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