A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11958156



Internal ID3209640
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:83655327..83661522hg38UCSC Ensembl
Innerchr5:83655329..83661520hg38UCSC Ensembl
Outerchr5:83655325..83661524hg38UCSC Ensembl
chr5:82951146..82957341hg19UCSC Ensembl
Innerchr5:82951148..82957339hg19UCSC Ensembl
Outerchr5:82951144..82957343hg19UCSC Ensembl
Cytoband5q14.3
Allele length
AssemblyAllele length
hg386196
hg196196
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3605639
Supporting Variants
SamplesHG02814
Known GenesHAPLN1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11958156
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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