A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3637547



Internal ID6677651
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:165399..184707hg38UCSC Ensembl
Innerchr16:165400..184707hg38UCSC Ensembl
Outerchr16:165399..184708hg38UCSC Ensembl
chr16:215398..234706hg19UCSC Ensembl
Innerchr16:215399..234706hg19UCSC Ensembl
Outerchr16:215398..234707hg19UCSC Ensembl
Cytoband16p13.3
Allele length
AssemblyAllele length
hg3819309
hg1919309
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv15354836, essv15354833, essv15354832, essv15354826, essv15354828, essv15354820, essv15354817, essv15354824, essv15354831, essv15354818, essv15354834, essv15354835, essv15354830, essv15354837, essv15354825, essv15354821, essv15354827, essv15354819, essv15354823, essv15354816, essv15354822, essv15354838, essv15354829
SamplesHG00864, HG01846, HG00978, HG01794, HG01816, HG00699, HG01812, HG02397, HG00728, HG03862, HG02410, HG02028, HG02151, HG01805, HG00729, HG02374, HG02182, HG02181, HG02353, HG00690, HG00684, HG01807, HG02179
Known GenesHBA1, HBA2, HBM, HBQ1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3637547
Frequency
Sample Size2504
Observed Gain0
Observed Loss23
Observed Complex0
Frequencyn/a


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