A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2669674



Internal ID9935779
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:221205778..221209165hg38UCSC Ensembl
chr1:221379120..221382507hg19UCSC Ensembl
Cytoband1q41
Allele length
AssemblyAllele length
hg383388
hg193388
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6366081, essv6005423, essv6542518, essv5894496, essv5424182, essv5652835, essv6093644, essv6290527, essv6500800, essv6018409, essv5570638, essv5611234, essv6030785, essv5759065, essv6185958, essv5666248, essv5820929, essv5861021, essv6470752, essv6322880, essv5688472, essv5630661
SamplesHG01079, HG01188, HG00367, HG00177, NA12399, NA19660, NA19678, HG01083, NA20539, HG00120, HG00232, HG01133, HG00253, HG01136, HG01171, NA20525, HG01197, HG00321, HG01174, NA19716, HG01055, HG00131
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2669674
Frequency
Sample Size1151
Observed Gain0
Observed Loss22
Observed Complex0
Frequencyn/a


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