A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2674290



Internal ID9940395
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:130876782..130877852hg38UCSC Ensembl
chr9:133752169..133753239hg19UCSC Ensembl
Cytoband9q34.12
Allele length
AssemblyAllele length
hg381071
hg191071
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5511380, essv5469210, essv5554182, essv6118194, essv6551096, essv5753231, essv5651934, essv6142968, essv5757675, essv6187431, essv6402157, essv5637583, essv5638080, essv5450906, essv6564050, essv5645473, essv5999988, essv5760942, essv6232233, essv6484369, essv5722889, essv5645835, essv5441835, essv5923842, essv6192966, essv5860470, essv6148358, essv5597713, essv6404446, essv5412924, essv5567849, essv5914452, essv6408668, essv6285971, essv5649587, essv5625502, essv5989756, essv5665167, essv6389249, essv5931362, essv6073839, essv5932020, essv5840806, essv5934301, essv5732481, essv6539008, essv6237398, essv6102565, essv5839667, essv6318416, essv5565383, essv5496238, essv6379933, essv5578028, essv5780009, essv5455271, essv6452673, essv5798659, essv6235408, essv6263294, essv5797037, essv6578474, essv6416669
SamplesHG01060, HG00442, HG01173, NA19466, NA18861, NA10851, HG01359, HG01052, HG00640, NA19359, NA19355, NA19057, NA19377, NA12058, NA20808, NA20346, NA19920, NA20771, HG01140, HG00122, HG01351, HG01488, NA18923, HG00270, NA19384, HG00243, NA19130, NA20759, HG00277, NA19383, NA20811, HG00160, HG00118, NA18908, NA19789, NA19921, NA12777, HG01136, HG00154, NA19247, NA19707, NA19403, HG00190, NA18933, NA19663, NA19982, HG01149, NA19257, NA19682, HG00126, NA19436, NA20801, NA19390, HG00336, HG01357, HG01174, HG01342, NA06986, NA19472, NA19713, NA18873, HG01082, NA19463
Known GenesABL1
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2674290
Frequency
Sample Size1151
Observed Gain0
Observed Loss63
Observed Complex0
Frequencyn/a


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