A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12111003



Internal ID2112819
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:156839545..157055054hg38UCSC Ensembl
Innerchr5:156839695..157054904hg38UCSC Ensembl
Outerchr5:156839395..157055204hg38UCSC Ensembl
chr5:156266556..156482065hg19UCSC Ensembl
Innerchr5:156266706..156481915hg19UCSC Ensembl
Outerchr5:156266406..156482215hg19UCSC Ensembl
Cytoband5q33.3
Allele length
AssemblyAllele length
hg38215510
hg19215510
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3607302
Supporting Variants
SamplesHG02645
Known GenesHAVCR1, PPP1R2P3, TIMD4
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12111003
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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