A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3634689



Internal ID7021492
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:61769414..61783235hg38UCSC Ensembl
Innerchr14:61769914..61782735hg38UCSC Ensembl
Outerchr14:61768414..61784235hg38UCSC Ensembl
chr14:62236132..62249953hg19UCSC Ensembl
Innerchr14:62236632..62249453hg19UCSC Ensembl
Outerchr14:62235132..62250953hg19UCSC Ensembl
Cytoband14q23.2
Allele length
AssemblyAllele length
hg3813822
hg1913822
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv15036422
SamplesHG01953
Known GenesSNAPC1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3634689
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