A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3604761



Internal ID6645011
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:38056637..38805862hg38UCSC Ensembl
Innerchr5:38056787..38805712hg38UCSC Ensembl
Outerchr5:38056487..38806012hg38UCSC Ensembl
chr5:38056739..38805964hg19UCSC Ensembl
Innerchr5:38056889..38805814hg19UCSC Ensembl
Outerchr5:38056589..38806114hg19UCSC Ensembl
Cytoband5p13.1
Allele length
AssemblyAllele length
hg38749226
hg19749226
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv11871374
SamplesNA12717
Known GenesEGFLAM, EGFLAM-AS2, EGFLAM-AS4, LIFR, LIFR-AS1, LOC101926904, MIR3650
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3604761
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer