A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3635419



Internal ID6675532
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:96217831..96224236hg38UCSC Ensembl
Innerchr14:96217831..96224236hg38UCSC Ensembl
Outerchr14:96217331..96224736hg38UCSC Ensembl
chr14:96684168..96690573hg19UCSC Ensembl
Innerchr14:96684168..96690573hg19UCSC Ensembl
Outerchr14:96683668..96691073hg19UCSC Ensembl
Cytoband14q32.2
Allele length
AssemblyAllele length
hg386406
hg196406
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv15103498, essv15103492, essv15103494, essv15103493, essv15103497, essv15103490, essv15103488, essv15103495, essv15103489, essv15103496, essv15103491
SamplesHG01956, HG03436, HG02861, NA19377, NA19206, NA20334, NA20355, HG03061, NA19475, NA19655, HG02860
Known GenesBDKRB2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3635419
Frequency
Sample Size2504
Observed Gain0
Observed Loss11
Observed Complex0
Frequencyn/a


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