A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3591164



Internal ID6978492
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:68127855..68128603hg38UCSC Ensembl
Innerchr2:68127905..68128553hg38UCSC Ensembl
Outerchr2:68127805..68128653hg38UCSC Ensembl
chr2:68354987..68355735hg19UCSC Ensembl
Innerchr2:68355037..68355685hg19UCSC Ensembl
Outerchr2:68354937..68355785hg19UCSC Ensembl
Cytoband2p14
Allele length
AssemblyAllele length
hg38749
hg19749
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10533616, essv10533617, essv10533615
SamplesHG02614, HG03559, HG03472
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3591164
Frequency
Sample Size2504
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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