A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12115656



Internal ID2804751
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:159894760..159897261hg38UCSC Ensembl
Innerchr5:159894783..159897239hg38UCSC Ensembl
Outerchr5:159894738..159897284hg38UCSC Ensembl
chr5:159321767..159324268hg19UCSC Ensembl
Innerchr5:159321790..159324246hg19UCSC Ensembl
Outerchr5:159321745..159324291hg19UCSC Ensembl
Cytoband5q33.3
Allele length
AssemblyAllele length
hg382502
hg192502
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3607351
Supporting Variants
SamplesHG02477
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12115656
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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