A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3605461



Internal ID6645705
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:76225916..76275755hg38UCSC Ensembl
Innerchr5:76225926..76275745hg38UCSC Ensembl
Outerchr5:76225906..76275765hg38UCSC Ensembl
chr5:75521741..75571580hg19UCSC Ensembl
Innerchr5:75521751..75571570hg19UCSC Ensembl
Outerchr5:75521731..75571590hg19UCSC Ensembl
Cytoband5q13.3
Allele length
AssemblyAllele length
hg3849840
hg1949840
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv11946117
SamplesHG03583
Known GenesSV2C
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3605461
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