A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10806151



Internal ID3809640
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:193276082..193287691hg38UCSC Ensembl
Innerchr2:193276082..193287691hg38UCSC Ensembl
Outerchr2:193275949..193287934hg38UCSC Ensembl
chr2:194140807..194152416hg19UCSC Ensembl
Innerchr2:194140807..194152416hg19UCSC Ensembl
Outerchr2:194140674..194152659hg19UCSC Ensembl
Cytoband2q32.3
Allele length
AssemblyAllele length
hg3811610
hg1911610
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3593802
Supporting Variants
SamplesHG03452
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10806151
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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