A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3636250



Internal ID7023046
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr15:41789475..41794246hg38UCSC Ensembl
Innerchr15:41789520..41794202hg38UCSC Ensembl
Outerchr15:41789431..41794291hg38UCSC Ensembl
chr15:42081673..42086444hg19UCSC Ensembl
Innerchr15:42081718..42086400hg19UCSC Ensembl
Outerchr15:42081629..42086489hg19UCSC Ensembl
Cytoband15q15.1
Allele length
AssemblyAllele length
hg384772
hg194772
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv15230580, essv15230583, essv15230582, essv15230581
SamplesHG03917, HG03595, NA19901, HG03718
Known GenesMAPKBP1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3636250
Frequency
Sample Size2504
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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