A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2658887



Internal ID9924992
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:35138310..35146866hg38UCSC Ensembl
Outerchr14:35137939..35147236hg38UCSC Ensembl
Innerchr14:35607516..35616072hg19UCSC Ensembl
Outerchr14:35607145..35616442hg19UCSC Ensembl
Cytoband14q13.2
Allele length
AssemblyAllele length
hg389298
hg199298
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv390e199
Supporting Variantsessv5440011, essv6387114, essv5812789, essv5879311, essv5490878, essv5418827, essv6468853, essv5544744, essv6171353, essv5474825, essv6343609, essv5918041, essv6283142, essv6290171, essv6539983, essv5884363, essv6527016, essv6092711, essv6102467, essv5861274, essv5678665, essv6415925, essv6403122, essv5604153, essv6003073, essv6552012, essv6458638
SamplesNA20529, NA20508, NA20531, NA20816, NA20507, NA20774, NA20769, NA20768, NA20539, NA20518, NA20775, NA20533, NA20515, NA20535, NA20524, NA20809, NA20536, NA20506, NA20828, NA20542, NA20799, NA20815, NA20790, NA20758, NA20503, NA20772, NA20509
Known GenesKIAA0391
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2658887
Frequency
Sample Size1151
Observed Gain0
Observed Loss27
Observed Complex0
Frequencyn/a


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