A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10674128



Internal ID473558
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:131378107..131433232hg38UCSC Ensembl
chr2:132135680..132190805hg19UCSC Ensembl
Cytoband2q21.1
Allele length
AssemblyAllele length
hg3855126
hg1955126
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3592477
Supporting Variants
SamplesHG00154
Known GenesLINC01120
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10674128
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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