A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2670177



Internal ID9589596
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:1572448..1587683hg38UCSC Ensembl
chr17:1475742..1490977hg19UCSC Ensembl
Cytoband17p13.3
Allele length
AssemblyAllele length
hg3815236
hg1915236
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5674181, essv5850880, essv5578189, essv6555087, essv5805858, essv6244411, essv5746884, essv6276973, essv5614902, essv6163918, essv5464756, essv5886712, essv6405396, essv5742337, essv6435717, essv5605078, essv6563343, essv5905104, essv5878591, essv5745819, essv5546369, essv5684943, essv6498013, essv5997601, essv6083769, essv5993941
SamplesNA19445, NA19331, NA19449, NA19461, HG01167, NA18934, NA19390, NA19197, NA19429, NA19908, NA19457, NA19316, NA19324, NA19102, NA19347, NA19332, NA19462, NA19235, NA19729, NA19403, NA19431, NA19452, NA18853, NA19350, NA20806, NA19385
Known GenesSLC43A2
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2670177
Frequency
Sample Size1151
Observed Gain0
Observed Loss26
Observed Complex0
Frequencyn/a


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