A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2671436



Internal ID9937541
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:123052736..123053079hg38UCSC Ensembl
chr6:123373881..123374224hg19UCSC Ensembl
Cytoband6q22.31
Allele length
AssemblyAllele length
hg38344
hg19344
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5877754, essv6307908, essv6457056, essv5818253, essv6134849, essv6177113, essv6189750, essv6346774, essv5665354, essv5807076, essv6093670, essv6548691, essv6268861, essv5765188, essv5964156, essv5523504, essv5829963, essv6378713, essv6343191, essv6594520, essv6372726, essv6179337, essv6340948, essv6572620, essv5738673, essv6295429, essv6483671, essv5836536, essv6487855, essv6399524, essv5999336, essv5896607, essv5572113, essv5601609, essv6506842, essv5449520, essv6022367, essv6424600, essv5901864, essv5667260, essv5501038, essv5477371, essv5854870, essv6287618, essv6045582, essv6315320, essv5542450, essv6397404, essv6093221, essv6269828, essv5820843, essv6175239, essv5617046, essv5627367, essv5520588, essv6379955, essv6288421, essv6580803, essv6391784, essv6417313, essv6486135, essv5573052, essv6573036, essv5695583, essv5585577, essv5837507, essv5782910, essv6164817, essv6097352, essv5632191, essv6176247, essv6543853, essv6070947, essv5733008, essv5501062, essv5625735, essv6114676, essv6470081, essv6532139, essv6193767, essv5458273, essv5399807, essv5619337, essv5553686
SamplesNA19700, NA19466, HG00361, HG00559, NA12414, HG00100, NA18561, NA18999, HG00318, NA19393, NA19684, HG00115, NA18510, NA12155, NA20814, NA18550, NA18489, HG01168, NA18558, NA18574, NA11992, NA19457, NA19313, HG00369, NA19079, NA20541, HG00236, HG01495, NA19137, NA19372, NA19371, NA19385, NA18990, NA20533, NA20127, NA19985, HG00253, NA11993, HG00137, NA18605, NA19210, NA19403, NA19462, NA19347, NA20809, HG00275, NA20519, NA18948, NA18907, NA20525, NA18573, NA19449, NA19655, NA19257, NA19469, NA19108, HG00734, HG00136, HG00278, HG01375, NA19835, NA20792, NA19428, NA19467, HG01137, HG00319, NA20516, NA18943, NA12763, NA06986, HG00269, NA19398, HG01491, NA19102, NA19116, NA19430, NA19129, HG01378, NA18968, HG00345, NA12006, NA19463, NA18562, NA19676
Known GenesCLVS2
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2671436
Frequency
Sample Size1151
Observed Gain0
Observed Loss84
Observed Complex0
Frequencyn/a


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