A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11865803



Internal ID1867619
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:34492621..34936206hg38UCSC Ensembl
Innerchr5:34492771..34936056hg38UCSC Ensembl
Outerchr5:34492471..34936356hg38UCSC Ensembl
chr5:34492726..34936311hg19UCSC Ensembl
Innerchr5:34492876..34936161hg19UCSC Ensembl
Outerchr5:34492576..34936461hg19UCSC Ensembl
Cytoband5p13.2
Allele length
AssemblyAllele length
hg38443586
hg19443586
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3604679
Supporting Variants
SamplesNA12717
Known GenesBRIX1, DNAJC21, RAD1, RAI14, TTC23L
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11865803
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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