A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11819308



Internal ID1821124
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:16100922..16104142hg38UCSC Ensembl
Innerchr5:16100922..16104142hg38UCSC Ensembl
Outerchr5:16100862..16104198hg38UCSC Ensembl
chr5:16101031..16104251hg19UCSC Ensembl
Innerchr5:16101031..16104251hg19UCSC Ensembl
Outerchr5:16100971..16104307hg19UCSC Ensembl
Cytoband5p15.1
Allele length
AssemblyAllele length
hg383221
hg193221
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3604123
Supporting Variants
SamplesHG02355
Known GenesMARCH11
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11819308
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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