A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3890819



Internal ID18838435
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:31397531..31484059hg38UCSC Ensembl
Outerchr6:31387541..31489965hg38UCSC Ensembl
Innerchr6:31365308..31451836hg19UCSC Ensembl
Outerchr6:31355318..31457742hg19UCSC Ensembl
Innerchr6:31473287..31559815hg18UCSC Ensembl
Outerchr6:31463297..31565721hg18UCSC Ensembl
Cytoband6p21.33
Allele length
AssemblyAllele length
hg38102425
hg19102425
hg18102425
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv25800654, essv25781929, essv25787194, essv25796896, essv25796143, essv25796420, essv25778361, essv25778500, essv25786949, essv25778528, essv25797556, essv25784232, essv25796428, essv25796266, essv25783570, essv25779676, essv25778586, essv25801169, essv25787676, essv25782297, essv25798658, essv25797446, essv25784117, essv25800278, essv25782270, essv25796012, essv25783394, essv25781662, essv25797544
Samples
Known GenesHCG26, HCP5, MICA
MethodSNP array
Analysis
PlatformIllumina HumanHap 550
Illumina HumanHap 610
Illumina Human OmniExpress
Comments
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)esv3890819
Frequency
Sample Size3017
Observed Gain0
Observed Loss29
Observed Complex0
Frequencyn/a


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