A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10425734



Internal ID1215428
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:20912397..20933028hg38UCSC Ensembl
chr2:21112157..21132788hg19UCSC Ensembl
Cytoband2p24.1
Allele length
AssemblyAllele length
hg3820632
hg1920632
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3590004
Supporting Variants
SamplesHG01080
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10425734
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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