A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10872254



Internal ID658088
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:228519537..228544821hg38UCSC Ensembl
chr2:229384253..229409537hg19UCSC Ensembl
Cytoband2q36.3
Allele length
AssemblyAllele length
hg3825285
hg1925285
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3594557
Supporting Variants
SamplesHG00304
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10872254
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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