A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10617818



Internal ID459107
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:110662654..110663879hg38UCSC Ensembl
Innerchr2:110662672..110663862hg38UCSC Ensembl
Outerchr2:110662637..110663897hg38UCSC Ensembl
chr2:111420231..111421456hg19UCSC Ensembl
Innerchr2:111420249..111421439hg19UCSC Ensembl
Outerchr2:111420214..111421474hg19UCSC Ensembl
Cytoband2q13
Allele length
AssemblyAllele length
hg381226
hg191226
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3591966
Supporting Variants
SamplesHG00145
Known GenesBUB1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10617818
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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