A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3893026



Internal ID19183846
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:109043821..109058455hg38UCSC Ensembl
Outerchr2:109029903..109071917hg38UCSC Ensembl
Innerchr2:109660277..109674911hg19UCSC Ensembl
Outerchr2:109646359..109688373hg19UCSC Ensembl
Innerchr2:109026709..109041343hg18UCSC Ensembl
Outerchr2:109012791..109054805hg18UCSC Ensembl
Cytoband2q12.3
Allele length
AssemblyAllele length
hg3842015
hg1942015
hg1842015
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv25797621, essv25796851, essv25780976, essv25786695, essv25785257, essv25796167, essv25796413, essv25797860, essv25785044, essv25797796, essv25780785, essv25797220, essv25797600, essv25797589, essv25797226, essv25797850, essv25796954, essv25785032
Samples
Known Genes
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
Illumina Human OmniExpress
Comments
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)esv3893026
Frequency
Sample Size3017
Observed Gain0
Observed Loss18
Observed Complex0
Frequencyn/a


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