A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3606937



Internal ID6647179
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:139275311..139275901hg38UCSC Ensembl
Innerchr5:139275320..139275893hg38UCSC Ensembl
Outerchr5:139275303..139275910hg38UCSC Ensembl
chr5:138611000..138611590hg19UCSC Ensembl
Innerchr5:138611009..138611582hg19UCSC Ensembl
Outerchr5:138610992..138611599hg19UCSC Ensembl
Cytoband5q31.2
Allele length
AssemblyAllele length
hg38591
hg19591
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv12075963, essv12075966, essv12075965, essv12075962, essv12075964, essv12075961
SamplesHG04026, HG04198, HG03773, HG04070, HG03772, HG03718
Known GenesMATR3, SNHG4
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3606937
Frequency
Sample Size2504
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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