A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11945150



Internal ID4799289
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:74927181..74928056hg38UCSC Ensembl
Innerchr5:74927209..74928029hg38UCSC Ensembl
Outerchr5:74927154..74928084hg38UCSC Ensembl
chr5:74223006..74223881hg19UCSC Ensembl
Innerchr5:74223034..74223854hg19UCSC Ensembl
Outerchr5:74222979..74223909hg19UCSC Ensembl
Cytoband5q13.3
Allele length
AssemblyAllele length
hg38876
hg19876
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3605439
Supporting Variants
SamplesNA11932
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11945150
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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