A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12076776



Internal ID5661092
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:140373187..140377755hg38UCSC Ensembl
Innerchr5:140373187..140377755hg38UCSC Ensembl
Outerchr5:140372911..140377998hg38UCSC Ensembl
chr5:139752772..139757340hg19UCSC Ensembl
Innerchr5:139752772..139757340hg19UCSC Ensembl
Outerchr5:139752496..139757583hg19UCSC Ensembl
Cytoband5q31.3
Allele length
AssemblyAllele length
hg384569
hg194569
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3606949
Supporting Variants
SamplesNA19072
Known GenesSLC4A9
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12076776
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