A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2658936



Internal ID9925041
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:201508948..201510347hg38UCSC Ensembl
chr2:202373671..202375070hg19UCSC Ensembl
Cytoband2q33.1
Allele length
AssemblyAllele length
hg381400
hg191400
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5510451, essv6593787, essv5720427, essv5834150, essv6017829, essv6202319, essv5922290, essv6349953, essv5406738, essv6244145, essv5574728, essv5573429, essv5962158, essv5458174, essv6454332, essv6513461, essv5478139, essv5669111, essv6136993, essv6567232, essv5550368, essv6528803, essv5662286, essv5925360, essv5926642, essv6501210, essv5613743, essv5585028, essv6344161, essv6108042, essv5660436, essv6120833, essv5994684, essv5893658, essv6013453, essv5876789, essv5488270, essv5908672, essv5971948, essv5733919
SamplesNA19397, NA19399, NA19332, NA19393, NA19190, NA18510, NA19396, NA18916, NA19138, NA19130, NA19404, NA18874, NA19917, NA19137, NA20340, NA19235, NA19172, NA19471, HG01440, NA19456, NA18867, NA18933, NA19455, NA19982, NA20126, NA20344, NA18856, NA18853, NA19469, NA19401, NA19435, NA19470, NA19428, NA20281, NA20341, NA20289, NA19213, NA19900, NA19129, NA18487
Known GenesALS2CR11
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2658936
Frequency
Sample Size1151
Observed Gain0
Observed Loss40
Observed Complex0
Frequencyn/a


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