A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10865057



Internal ID1090527
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:223686384..223714738hg38UCSC Ensembl
Innerchr2:223686384..223714738hg38UCSC Ensembl
Outerchr2:223685884..223715238hg38UCSC Ensembl
chr2:224551101..224579455hg19UCSC Ensembl
Innerchr2:224551101..224579455hg19UCSC Ensembl
Outerchr2:224550601..224579955hg19UCSC Ensembl
Cytoband2q36.1
Allele length
AssemblyAllele length
hg3828355
hg1928355
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3594449
Supporting Variants
SamplesHG00717
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10865057
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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