A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3593349



Internal ID6980673
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:171559989..171591324hg38UCSC Ensembl
chr2:172416499..172447834hg19UCSC Ensembl
Cytoband2q31.1
Allele length
AssemblyAllele length
hg3831336
hg1931336
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10758160
SamplesNA19175
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3593349
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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