A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3621704



Internal ID7008571
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:123913672..123919238hg38UCSC Ensembl
Innerchr9:123913822..123919088hg38UCSC Ensembl
Outerchr9:123913522..123919388hg38UCSC Ensembl
chr9:126675951..126681517hg19UCSC Ensembl
Innerchr9:126676101..126681367hg19UCSC Ensembl
Outerchr9:126675801..126681667hg19UCSC Ensembl
Cytoband9q33.3
Allele length
AssemblyAllele length
hg385567
hg195567
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv13618636, essv13618633, essv13618624, essv13618631, essv13618632, essv13618630, essv13618634, essv13618629, essv13618623, essv13618628, essv13618626, essv13618627, essv13618625, essv13618635
SamplesHG01348, NA11920, NA20531, HG00261, HG01932, HG01353, HG01384, HG00239, HG00740, HG01697, HG01700, NA12043, NA20815, HG01302
Known GenesDENND1A
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3621704
Frequency
Sample Size2504
Observed Gain0
Observed Loss14
Observed Complex0
Frequencyn/a


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