A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10846738



Internal ID3551857
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:217311190..217321978hg38UCSC Ensembl
Innerchr2:217311690..217321478hg38UCSC Ensembl
Outerchr2:217310190..217322978hg38UCSC Ensembl
chr2:218175913..218186701hg19UCSC Ensembl
Innerchr2:218176413..218186201hg19UCSC Ensembl
Outerchr2:218174913..218187701hg19UCSC Ensembl
Cytoband2q35
Allele length
AssemblyAllele length
hg3810789
hg1910789
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3594312
Supporting Variants
SamplesHG03133
Known GenesDIRC3
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10846738
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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