A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2657477



Internal ID9576896
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:1046717..1051023hg38UCSC Ensembl
Outerchr19:1046346..1051393hg38UCSC Ensembl
Innerchr19:1046716..1051022hg19UCSC Ensembl
Outerchr19:1046345..1051392hg19UCSC Ensembl
Cytoband19p13.3
Allele length
AssemblyAllele length
hg385048
hg195048
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6552844, essv6304477, essv6425358, essv6391441, essv6272073, essv5448928, essv5719094, essv5860734, essv5970805, essv5548578, essv5913086, essv5404759, essv5438262, essv6210101, essv5669361, essv6333689, essv5786831, essv5410904, essv6589719, essv5493791, essv5647180, essv6303869, essv5438609, essv6098520, essv5651721, essv5542189, essv5621896, essv6462374, essv5836821, essv6502939, essv5643615, essv6084471, essv6035770, essv6519977, essv6439031, essv5409368, essv6003504, essv5576140, essv6239659, essv6461943, essv6419096, essv5672043, essv5908243, essv5960462, essv6595248
SamplesHG00734, HG01072, HG01052, HG01075, HG01055, HG01173, HG01083, HG00736, HG01098, HG01079, HG01197, HG01051, HG01082, HG01174, HG01182, HG01167, HG01188, HG01204, HG01101, HG01168, HG00737, HG01171, HG01107, HG01048, HG01061, HG01183, HG01047, HG01187, HG01097, HG01191, HG01066, HG00732, HG01073, HG01170, HG01069, HG01176, HG01080, HG01070, HG01060, HG01190, HG01095, HG01108, HG01102, HG01067, HG01198
Known GenesABCA7
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2657477
Frequency
Sample Size1151
Observed Gain0
Observed Loss45
Observed Complex0
Frequencyn/a


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