A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3593219



Internal ID6980543
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:164588561..164606774hg38UCSC Ensembl
chr2:165445071..165463284hg19UCSC Ensembl
Cytoband2q24.3
Allele length
AssemblyAllele length
hg3818214
hg1918214
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10745724
SamplesNA19355
Known GenesGRB14
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3593219
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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