A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2677302



Internal ID9596721
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:18428906..18438512hg38UCSC Ensembl
Outerchr19:18428535..18438882hg38UCSC Ensembl
Innerchr19:18539716..18549322hg19UCSC Ensembl
Outerchr19:18539345..18549692hg19UCSC Ensembl
Cytoband19p13.11
Allele length
AssemblyAllele length
hg3810348
hg1910348
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5857005, essv5923646, essv5660294, essv5542139, essv6491894, essv6433676, essv6590294, essv5924973, essv6443750, essv5861639, essv5410209, essv6090932, essv6426904, essv5916109, essv6549113, essv5591137, essv5480493, essv6086187, essv5516210, essv5853735, essv6325067, essv6053709, essv6549785, essv5821473, essv5864352, essv5981707, essv5468268, essv5698468, essv6587363, essv5416048, essv6162488, essv6264823, essv6124102, essv5416589, essv6136172, essv6407638, essv6379784, essv5622003, essv6486108, essv5572054
SamplesHG01060, HG01173, HG01052, HG01079, HG01188, HG01066, HG00737, HG01051, HG01070, HG01167, HG00736, HG01083, HG01069, HG01080, HG01067, HG01170, HG01072, HG01176, HG01198, HG01048, HG01183, HG01187, HG01171, HG00732, HG01095, HG00740, HG01102, HG01073, HG01197, HG01182, HG01101, HG01107, HG01204, HG01075, HG01190, HG01174, HG01108, HG01082, HG01191, HG01061
Known GenesISYNA1, SSBP4
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2677302
Frequency
Sample Size1151
Observed Gain0
Observed Loss40
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer