A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10606604



Internal ID5392625
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:106235867..106247445hg38UCSC Ensembl
Innerchr2:106236367..106246945hg38UCSC Ensembl
Outerchr2:106234867..106248445hg38UCSC Ensembl
chr2:106852323..106863901hg19UCSC Ensembl
Innerchr2:106852823..106863401hg19UCSC Ensembl
Outerchr2:106851323..106864901hg19UCSC Ensembl
Cytoband2q12.2
Allele length
AssemblyAllele length
hg3811579
hg1911579
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3591855
Supporting Variants
SamplesNA18940
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10606604
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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