A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11901247



Internal ID2526354
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 StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3605037
Supporting Variants
SamplesHG02238
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11901247
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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