A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2675219



Internal ID9941324
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:241240403..241241669hg38UCSC Ensembl
chr2:242179818..242181084hg19UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg381267
hg191267
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5596408, essv6394367
SamplesHG01048, NA12778
Known GenesHDLBP
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2675219
Frequency
Sample Size1151
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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