A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3605506



Internal ID6972436
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:78328264..78328873hg38UCSC Ensembl
Innerchr5:78328273..78328864hg38UCSC Ensembl
Outerchr5:78328255..78328882hg38UCSC Ensembl
chr5:77624088..77624697hg19UCSC Ensembl
Innerchr5:77624097..77624688hg19UCSC Ensembl
Outerchr5:77624079..77624706hg19UCSC Ensembl
Cytoband5q14.1
Allele length
AssemblyAllele length
hg38610
hg19610
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv11949239, essv11949240, essv11949241, essv11949238
SamplesNA18944, NA20818, HG02128, NA12890
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3605506
Frequency
Sample Size2504
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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