A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11992403



Internal ID2749893
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 StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3605934
Supporting Variants
SamplesHG02419
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11992403
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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