A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11903902



Internal ID1164297
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:53757695..53763738hg38UCSC Ensembl
Innerchr5:53757695..53763738hg38UCSC Ensembl
Outerchr5:53757195..53764238hg38UCSC Ensembl
chr5:53053525..53059568hg19UCSC Ensembl
Innerchr5:53053525..53059568hg19UCSC Ensembl
Outerchr5:53053025..53060068hg19UCSC Ensembl
Cytoband5q11.2
Allele length
AssemblyAllele length
hg386044
hg196044
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3605076
Supporting Variants
SamplesHG01048
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11903902
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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