A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12076777



Internal ID2904713
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:140415506..140420193hg38UCSC Ensembl
Innerchr5:140416006..140419693hg38UCSC Ensembl
Outerchr5:140414506..140421193hg38UCSC Ensembl
chr5:139795091..139799778hg19UCSC Ensembl
Innerchr5:139795591..139799278hg19UCSC Ensembl
Outerchr5:139794091..139800778hg19UCSC Ensembl
Cytoband5q31.3
Allele length
AssemblyAllele length
hg384688
hg194688
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3606950
Supporting Variants
SamplesHG02573
Known GenesANKHD1, ANKHD1-EIF4EBP3
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12076777
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