A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6572834



Internal ID9449070
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:236000627..236001200hg38UCSC Ensembl
chr2:236909271..236909844hg19UCSC Ensembl
Cytoband2q37.2
Allele length
AssemblyAllele length
hg38574
hg19574
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv2659699
Supporting Variants
SamplesNA18868
Known GenesAGAP1
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv6572834
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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