A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10864581



Internal ID4352109
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:223200559..223206951hg38UCSC Ensembl
Innerchr2:223200559..223206951hg38UCSC Ensembl
Outerchr2:223200518..223207038hg38UCSC Ensembl
chr2:224065277..224071669hg19UCSC Ensembl
Innerchr2:224065277..224071669hg19UCSC Ensembl
Outerchr2:224065236..224071756hg19UCSC Ensembl
Cytoband2q36.1
Allele length
AssemblyAllele length
hg386393
hg196393
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3594441
Supporting Variants
SamplesHG03888
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10864581
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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