A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3593393



Internal ID6633673
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:173921104..173932730hg38UCSC Ensembl
chr2:174785832..174797458hg19UCSC Ensembl
Cytoband2q31.1
Allele length
AssemblyAllele length
hg3811627
hg1911627
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv751e214
Supporting Variantsessv10763199, essv10763200
SamplesNA20769, HG01121
Known GenesSP3
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3593393
Frequency
Sample Size2504
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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