A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3593255



Internal ID6980579
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:166627433..166640033hg38UCSC Ensembl
Innerchr2:166627445..166640021hg38UCSC Ensembl
Outerchr2:166627421..166640045hg38UCSC Ensembl
chr2:167483943..167496543hg19UCSC Ensembl
Innerchr2:167483955..167496531hg19UCSC Ensembl
Outerchr2:167483931..167496555hg19UCSC Ensembl
Cytoband2q24.3
Allele length
AssemblyAllele length
hg3812601
hg1912601
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10749206
SamplesHG02648
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3593255
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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