A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3607613



Internal ID6994545
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:173369588..173376926hg38UCSC Ensembl
Innerchr5:173369588..173376926hg38UCSC Ensembl
Outerchr5:173369337..173377161hg38UCSC Ensembl
chr5:172796591..172803929hg19UCSC Ensembl
Innerchr5:172796591..172803929hg19UCSC Ensembl
Outerchr5:172796340..172804164hg19UCSC Ensembl
Cytoband5q35.1
Allele length
AssemblyAllele length
hg387339
hg197339
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv12134528
SamplesHG03854
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3607613
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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