A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2671429



Internal ID9937534
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:4633959..4634247hg38UCSC Ensembl
Outerchr2:4633802..4634400hg38UCSC Ensembl
Innerchr2:4681549..4681837hg19UCSC Ensembl
Outerchr2:4681392..4681990hg19UCSC Ensembl
Cytoband2p25.2
Allele length
AssemblyAllele length
hg38599
hg19599
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6094177, essv5699341, essv6488553
SamplesNA18510, NA19381, NA19108
Known GenesLOC727982
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2671429
Frequency
Sample Size1151
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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