A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11820092



Internal ID4867315
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:16535614..16536622hg38UCSC Ensembl
Innerchr5:16535614..16536622hg38UCSC Ensembl
Outerchr5:16535542..16536681hg38UCSC Ensembl
chr5:16535723..16536731hg19UCSC Ensembl
Innerchr5:16535723..16536731hg19UCSC Ensembl
Outerchr5:16535651..16536790hg19UCSC Ensembl
Cytoband5p15.1
Allele length
AssemblyAllele length
hg381009
hg191009
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3604133
Supporting Variants
SamplesNA12287
Known GenesFAM134B
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11820092
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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