A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3603974



Internal ID6644227
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:9512784..9514379hg38UCSC Ensembl
Innerchr5:9512790..9514373hg38UCSC Ensembl
Outerchr5:9512778..9514385hg38UCSC Ensembl
chr5:9512896..9514491hg19UCSC Ensembl
Innerchr5:9512902..9514485hg19UCSC Ensembl
Outerchr5:9512890..9514497hg19UCSC Ensembl
Cytoband5p15.31
Allele length
AssemblyAllele length
hg381596
hg191596
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv11807185, essv11807187, essv11807186, essv11807188
SamplesHG02513, HG00584, HG00613, HG00513
Known GenesSEMA5A
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3603974
Frequency
Sample Size2504
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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