A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11853257



Internal ID3904276
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:29756857..29771835hg38UCSC Ensembl
Innerchr5:29756883..29771809hg38UCSC Ensembl
Outerchr5:29756831..29771861hg38UCSC Ensembl
chr5:29756964..29771942hg19UCSC Ensembl
Innerchr5:29756990..29771916hg19UCSC Ensembl
Outerchr5:29756938..29771968hg19UCSC Ensembl
Cytoband5p13.3
Allele length
AssemblyAllele length
hg3814979
hg1914979
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3604542
Supporting Variants
SamplesHG03559
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11853257
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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