A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2663150



Internal ID9582569
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:1137517..1141723hg38UCSC Ensembl
Outerchr19:1137146..1142093hg38UCSC Ensembl
Innerchr19:1137516..1141722hg19UCSC Ensembl
Outerchr19:1137145..1142092hg19UCSC Ensembl
Cytoband19p13.3
Allele length
AssemblyAllele length
hg384948
hg194948
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5488799, essv6344638, essv6526923, essv5713532, essv5407363, essv5536607, essv6004425, essv5643306, essv5458283, essv5854151, essv5809042, essv5898411, essv5570541, essv6087727, essv5821476, essv6374383, essv5648568, essv5491099, essv5472609, essv6565830, essv5442466, essv6373933, essv5779214, essv6299851, essv5555464, essv6495502, essv5661123, essv6128395, essv5787252, essv6170606, essv6570746, essv6203397, essv6029495, essv6339603, essv5876550, essv5630100, essv5978758, essv5779701, essv5515911, essv6194232, essv6441259
SamplesHG00734, HG01072, HG01052, HG01075, HG01055, HG01173, HG01083, HG00736, HG01098, HG01197, HG01051, HG01082, HG01174, HG01182, HG01188, HG01204, HG01101, HG01168, HG00737, HG01171, HG01107, HG01061, HG01183, HG01047, HG01187, HG01097, HG01191, HG00640, HG01066, HG00732, HG01170, HG01069, HG01176, HG01070, HG01060, HG01190, HG01095, HG01108, HG00641, HG01102, HG01198
Known GenesSBNO2
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2663150
Frequency
Sample Size1151
Observed Gain0
Observed Loss41
Observed Complex0
Frequencyn/a


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