A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3590977



Internal ID6978305
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:59160742..59175471hg38UCSC Ensembl
chr2:59387877..59402606hg19UCSC Ensembl
Cytoband2p16.1
Allele length
AssemblyAllele length
hg3814730
hg1914730
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10518211, essv10518212, essv10518207, essv10518209, essv10518213, essv10518210, essv10518208
SamplesHG03096, HG02890, HG02885, HG02586, HG02722, HG02667, HG02799
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3590977
Frequency
Sample Size2504
Observed Gain0
Observed Loss7
Observed Complex0
Frequencyn/a


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