A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11947333



Internal ID2158318
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:77094001..77095526hg38UCSC Ensembl
Innerchr5:77094021..77095506hg38UCSC Ensembl
Outerchr5:77093981..77095546hg38UCSC Ensembl
chr5:76389826..76391351hg19UCSC Ensembl
Innerchr5:76389846..76391331hg19UCSC Ensembl
Outerchr5:76389806..76391371hg19UCSC Ensembl
Cytoband5q13.3
Allele length
AssemblyAllele length
hg381526
hg191526
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3605480
Supporting Variants
SamplesHG01951
Known GenesZBED3-AS1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11947333
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer