A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3619055



Internal ID7005936
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:141172088..141188165hg38UCSC Ensembl
Innerchr8:141172088..141188165hg38UCSC Ensembl
Outerchr8:141171588..141188665hg38UCSC Ensembl
chr8:142182187..142198264hg19UCSC Ensembl
Innerchr8:142182187..142198264hg19UCSC Ensembl
Outerchr8:142181687..142198764hg19UCSC Ensembl
Cytoband8q24.3
Allele length
AssemblyAllele length
hg3816078
hg1916078
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv13358399, essv13358397, essv13358398, essv13358400, essv13358401
SamplesHG02836, HG00272, HG00182, NA19908, HG00373
Known GenesDENND3
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3619055
Frequency
Sample Size2504
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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