A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12116528



Internal ID2969036
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:160300015..160303407hg38UCSC Ensembl
Innerchr5:160300046..160303377hg38UCSC Ensembl
Outerchr5:160299985..160303438hg38UCSC Ensembl
chr5:159727022..159730414hg19UCSC Ensembl
Innerchr5:159727053..159730384hg19UCSC Ensembl
Outerchr5:159726992..159730445hg19UCSC Ensembl
Cytoband5q33.3
Allele length
AssemblyAllele length
hg383393
hg193393
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3607369
Supporting Variants
SamplesHG02621
Known GenesCCNJL
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12116528
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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