A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3592145



Internal ID6979472
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:117799937..117806444hg38UCSC Ensembl
Innerchr2:117799937..117806444hg38UCSC Ensembl
Outerchr2:117799437..117806944hg38UCSC Ensembl
chr2:118557513..118564020hg19UCSC Ensembl
Innerchr2:118557513..118564020hg19UCSC Ensembl
Outerchr2:118557013..118564520hg19UCSC Ensembl
Cytoband2q14.1
Allele length
AssemblyAllele length
hg386508
hg196508
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10637285, essv10637286
SamplesHG02419, HG03046
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3592145
Frequency
Sample Size2504
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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