A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3605391



Internal ID6992413
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:71615255..71624093hg38UCSC Ensembl
Innerchr5:71615294..71624054hg38UCSC Ensembl
Outerchr5:71615216..71624132hg38UCSC Ensembl
chr5:70911082..70919920hg19UCSC Ensembl
Innerchr5:70911121..70919881hg19UCSC Ensembl
Outerchr5:70911043..70919959hg19UCSC Ensembl
Cytoband5q13.2
Allele length
AssemblyAllele length
hg388839
hg198839
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv11940889, essv11940891, essv11940888, essv11940890
SamplesHG01762, HG01182, NA19749, HG02235
Known GenesMCCC2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3605391
Frequency
Sample Size2504
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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