A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12123119



Internal ID5050236
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:163706498..163710014hg38UCSC Ensembl
Innerchr5:163706507..163710006hg38UCSC Ensembl
Outerchr5:163706490..163710023hg38UCSC Ensembl
chr5:163133504..163137020hg19UCSC Ensembl
Innerchr5:163133513..163137012hg19UCSC Ensembl
Outerchr5:163133496..163137029hg19UCSC Ensembl
Cytoband5q34
Allele length
AssemblyAllele length
hg383517
hg193517
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3607458
Supporting Variants
SamplesNA18531
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12123119
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