A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3607605



Internal ID6994537
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:173031381..173038171hg38UCSC Ensembl
Innerchr5:173031881..173037671hg38UCSC Ensembl
Outerchr5:173030381..173039171hg38UCSC Ensembl
chr5:172458384..172465174hg19UCSC Ensembl
Innerchr5:172458884..172464674hg19UCSC Ensembl
Outerchr5:172457384..172466174hg19UCSC Ensembl
Cytoband5q35.1
Allele length
AssemblyAllele length
hg386791
hg196791
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv12134075
SamplesHG03668
Known GenesATP6V0E1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3607605
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