A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3594651



Internal ID6634927
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:232406991..232447204hg38UCSC Ensembl
chr2:233271701..233311914hg19UCSC Ensembl
Cytoband2q37.1
Allele length
AssemblyAllele length
hg3840214
hg1940214
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10876888, essv10876885, essv10876887, essv10876886
SamplesHG02307, NA21101, NA19752, NA19439
Known GenesALPPL2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3594651
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