A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3593549



Internal ID6633829
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:181846220..181983097hg38UCSC Ensembl
chr2:182710947..182847824hg19UCSC Ensembl
Cytoband2q31.3
Allele length
AssemblyAllele length
hg38136878
hg19136878
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10787257, essv10787256, essv10787255, essv10787254
SamplesNA19350, NA18988, HG01275, NA20773
Known GenesPPP1R1C, SSFA2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3593549
Frequency
Sample Size2504
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer