A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2669638



Internal ID2902725
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:29283419..29285901hg38UCSC Ensembl
chr22:29679408..29681890hg19UCSC Ensembl
Cytoband22q12.2
Allele length
AssemblyAllele length
hg382483
hg192483
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5883394, essv5707929, essv5641357, essv5659784, essv6177795, essv6065632, essv6149538, essv6324045, essv5445979, essv6262009, essv5964010, essv5428886, essv6506811, essv6369199, essv5611418, essv6212139, essv5487646
SamplesHG00734, NA19437, NA19311, NA19455, NA19430, NA18868, NA19917, NA19316, NA19324, NA19247, NA19374, NA19901, HG01170, NA19328, NA19235, NA18917, NA19439
Known GenesEWSR1
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2669638
Frequency
Sample Size1151
Observed Gain0
Observed Loss17
Observed Complex0
Frequencyn/a


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