A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12075969



Internal ID3402429
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:139359278..139363635hg38UCSC Ensembl
Innerchr5:139359333..139363580hg38UCSC Ensembl
Outerchr5:139359223..139363690hg38UCSC Ensembl
chr5:138694967..138699324hg19UCSC Ensembl
Innerchr5:138695022..138699269hg19UCSC Ensembl
Outerchr5:138694912..138699379hg19UCSC Ensembl
Cytoband5q31.2
Allele length
AssemblyAllele length
hg384358
hg194358
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3606938
Supporting Variants
SamplesHG03049
Known GenesPAIP2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12075969
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