A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12135653



Internal ID439337
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:174560309..174569583hg38UCSC Ensembl
Innerchr5:174560309..174569583hg38UCSC Ensembl
Outerchr5:174560227..174569747hg38UCSC Ensembl
chr5:173987312..173996586hg19UCSC Ensembl
Innerchr5:173987312..173996586hg19UCSC Ensembl
Outerchr5:173987230..173996750hg19UCSC Ensembl
Cytoband5q35.2
Allele length
AssemblyAllele length
hg389275
hg199275
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3607632
Supporting Variants
SamplesHG00137
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12135653
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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