A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3605463



Internal ID6992485
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:76369662..76371218hg38UCSC Ensembl
Innerchr5:76369662..76371218hg38UCSC Ensembl
Outerchr5:76369393..76371391hg38UCSC Ensembl
chr5:75665487..75667043hg19UCSC Ensembl
Innerchr5:75665487..75667043hg19UCSC Ensembl
Outerchr5:75665218..75667216hg19UCSC Ensembl
Cytoband5q13.3
Allele length
AssemblyAllele length
hg381557
hg191557
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv11946120, essv11946119, essv11946121, essv11946122
SamplesHG01326, HG03295, NA19114, HG01055
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3605463
Frequency
Sample Size2504
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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