A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6181379



Internal ID9158782
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:105045645..105049130hg38UCSC Ensembl
chr2:105662103..105665588hg19UCSC Ensembl
Cytoband2q12.1
Allele length
AssemblyAllele length
hg383486
hg193486
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv2663750
Supporting Variants
SamplesHG00231
Known GenesMRPS9
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv6181379
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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