A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10714936



Internal ID3570051
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:153479529..153513555hg38UCSC Ensembl
chr2:154336042..154370068hg19UCSC Ensembl
Cytoband2q23.3
Allele length
AssemblyAllele length
hg3834027
hg1934027
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3592958
Supporting Variants
SamplesHG03160
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10714936
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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