A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12120145



Internal ID6184753
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:162396175..162400805hg38UCSC Ensembl
Innerchr5:162396175..162400805hg38UCSC Ensembl
Outerchr5:162396027..162400936hg38UCSC Ensembl
chr5:161823181..161827811hg19UCSC Ensembl
Innerchr5:161823181..161827811hg19UCSC Ensembl
Outerchr5:161823033..161827942hg19UCSC Ensembl
Cytoband5q34
Allele length
AssemblyAllele length
hg384631
hg194631
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3607427
Supporting Variants
SamplesNA19719
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12120145
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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