A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12147823



Internal ID2149639
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:178132053..178133894hg38UCSC Ensembl
Innerchr5:178132071..178133876hg38UCSC Ensembl
Outerchr5:178132035..178133912hg38UCSC Ensembl
chr5:177559054..177560895hg19UCSC Ensembl
Innerchr5:177559072..177560877hg19UCSC Ensembl
Outerchr5:177559036..177560913hg19UCSC Ensembl
Cytoband5q35.3
Allele length
AssemblyAllele length
hg381842
hg191842
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3607706
Supporting Variants
SamplesHG02885
Known GenesRMND5B
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12147823
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