A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3605037



Internal ID6992065
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:51474029..51474797hg38UCSC Ensembl
Innerchr5:51474045..51474782hg38UCSC Ensembl
Outerchr5:51474014..51474813hg38UCSC Ensembl
chr5:50769863..50770631hg19UCSC Ensembl
Innerchr5:50769879..50770616hg19UCSC Ensembl
Outerchr5:50769848..50770647hg19UCSC Ensembl
Cytoband5q11.2
Allele length
AssemblyAllele length
hg38769
hg19769
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv11901247, essv11901246
SamplesHG01770, HG02238
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3605037
Frequency
Sample Size2504
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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