A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3603997



Internal ID6644250
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:10277108..10284648hg38UCSC Ensembl
Innerchr5:10277108..10284648hg38UCSC Ensembl
Outerchr5:10276608..10285148hg38UCSC Ensembl
chr5:10277220..10284760hg19UCSC Ensembl
Innerchr5:10277220..10284760hg19UCSC Ensembl
Outerchr5:10276720..10285260hg19UCSC Ensembl
Cytoband5p15.2
Allele length
AssemblyAllele length
hg387541
hg197541
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv11809110, essv11809108, essv11809109
SamplesHG02497, NA19436, NA19434
Known GenesCMBL
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3603997
Frequency
Sample Size2504
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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