A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11869444



Internal ID1871260
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:37145372..37511029hg38UCSC Ensembl
Innerchr5:37145522..37510879hg38UCSC Ensembl
Outerchr5:37145222..37511179hg38UCSC Ensembl
chr5:37145474..37511131hg19UCSC Ensembl
Innerchr5:37145624..37510981hg19UCSC Ensembl
Outerchr5:37145324..37511281hg19UCSC Ensembl
Cytoband5p13.2
Allele length
AssemblyAllele length
hg38365658
hg19365658
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3604728
Supporting Variants
SamplesHG04006
Known GenesC5orf42, NUP155, WDR70
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11869444
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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