A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2675967



Internal ID9942072
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:37348347..37353988hg38UCSC Ensembl
chr22:37744388..37750028hg19UCSC Ensembl
Cytoband22q13.1
Allele length
AssemblyAllele length
hg385642
hg195641
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5841223, essv6078906, essv6062466, essv5772153, essv6061453, essv5984187, essv6407407, essv5823732, essv5556739, essv5752506, essv6273921, essv5682257, essv5788881, essv5737478, essv6318428, essv5991538, essv5538625, essv5992149, essv6214506, essv5873786, essv5629555, essv5504750, essv5989803, essv6130521, essv5574713, essv6514432, essv5848416, essv5782579, essv5483920, essv5525551, essv5754468, essv5610596, essv5610137, essv6129791, essv6249506, essv6471278, essv5422717, essv5666965, essv6159734, essv5781301, essv6371005, essv6419210, essv5463239, essv6274367, essv5443985, essv5824586
SamplesHG00361, HG00242, HG01389, NA07357, HG01070, HG01177, NA19678, NA11918, HG01354, NA19681, NA12282, HG01080, NA11932, HG00232, HG00309, NA19725, HG00159, HG01048, HG00178, HG01124, HG00313, HG00137, HG00188, NA19657, NA20787, NA20760, HG00344, NA20519, HG00239, HG01047, NA12249, HG00276, HG00246, HG01148, NA20801, HG01190, HG00353, NA07037, NA12347, HG00339, NA20289, HG00186, NA19116, HG00171, NA12006, NA20585
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2675967
Frequency
Sample Size1151
Observed Gain0
Observed Loss46
Observed Complex0
Frequencyn/a


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