A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3605934



Internal ID6992871
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:99312869..99324963hg38UCSC Ensembl
Innerchr5:99313369..99324463hg38UCSC Ensembl
Outerchr5:99311869..99325963hg38UCSC Ensembl
chr5:98648573..98660667hg19UCSC Ensembl
Innerchr5:98649073..98660167hg19UCSC Ensembl
Outerchr5:98647573..98661667hg19UCSC Ensembl
Cytoband5q21.1
Allele length
AssemblyAllele length
hg3812095
hg1912095
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv11992402, essv11992403
SamplesHG02419, HG02111
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3605934
Frequency
Sample Size2504
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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