A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3621702



Internal ID7008569
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:123913633..123917506hg38UCSC Ensembl
chr9:126675912..126679785hg19UCSC Ensembl
Cytoband9q33.3
Allele length
AssemblyAllele length
hg383874
hg193874
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv13618610, essv13618617, essv13618615, essv13618612, essv13618609, essv13618611, essv13618616, essv13618618, essv13618614, essv13618613, essv13618619, essv13618608
SamplesHG01348, NA11920, NA20531, HG00261, HG01932, HG01353, HG01384, HG00740, NA19449, HG01700, NA12043, HG01302
Known GenesDENND1A
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3621702
Frequency
Sample Size2504
Observed Gain0
Observed Loss12
Observed Complex0
Frequencyn/a


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