A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3605109



Internal ID6992137
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:56013210..56017660hg38UCSC Ensembl
Innerchr5:56013268..56017602hg38UCSC Ensembl
Outerchr5:56013152..56017718hg38UCSC Ensembl
chr5:55309038..55313488hg19UCSC Ensembl
Innerchr5:55309096..55313430hg19UCSC Ensembl
Outerchr5:55308980..55313546hg19UCSC Ensembl
Cytoband5q11.2
Allele length
AssemblyAllele length
hg384451
hg194451
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv11906648
SamplesHG02603
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3605109
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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