A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10708229



Internal ID5946010
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:148569192..148587944hg38UCSC Ensembl
chr2:149326761..149345513hg19UCSC Ensembl
Cytoband2q23.1
Allele length
AssemblyAllele length
hg3818753
hg1918753
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3592848
Supporting Variants
SamplesNA19355
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10708229
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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