A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10699882



Internal ID6284331
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:145659841..145660785hg38UCSC Ensembl
Innerchr2:145659879..145660748hg38UCSC Ensembl
Outerchr2:145659804..145660823hg38UCSC Ensembl
chr2:146417409..146418353hg19UCSC Ensembl
Innerchr2:146417447..146418316hg19UCSC Ensembl
Outerchr2:146417372..146418391hg19UCSC Ensembl
Cytoband2q22.3
Allele length
AssemblyAllele length
hg38945
hg19945
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3592791
Supporting Variants
SamplesNA19818
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10699882
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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