A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10445104



Internal ID4068134
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:31632769..31650258hg38UCSC Ensembl
Innerchr2:31633269..31649758hg38UCSC Ensembl
Outerchr2:31631769..31651258hg38UCSC Ensembl
chr2:31857838..31875327hg19UCSC Ensembl
Innerchr2:31858338..31874827hg19UCSC Ensembl
Outerchr2:31856838..31876327hg19UCSC Ensembl
Cytoband2p23.1
Allele length
AssemblyAllele length
hg3817490
hg1917490
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3590222
Supporting Variants
SamplesHG03702
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10445104
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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