A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10705230



Internal ID5946142
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:146677569..146692631hg38UCSC Ensembl
Innerchr2:146677634..146692567hg38UCSC Ensembl
Outerchr2:146677505..146692696hg38UCSC Ensembl
chr2:147435137..147450199hg19UCSC Ensembl
Innerchr2:147435202..147450135hg19UCSC Ensembl
Outerchr2:147435073..147450264hg19UCSC Ensembl
Cytoband2q22.3
Allele length
AssemblyAllele length
hg3815063
hg1915063
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3592807
Supporting Variants
SamplesNA19355
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10705230
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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