A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3640229



Internal ID6680316
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:21203666..21208299hg38UCSC Ensembl
Innerchr17:21204166..21207799hg38UCSC Ensembl
Outerchr17:21202666..21209299hg38UCSC Ensembl
chr17:21106979..21111612hg19UCSC Ensembl
Innerchr17:21107479..21111112hg19UCSC Ensembl
Outerchr17:21105979..21112612hg19UCSC Ensembl
Cytoband17p11.2
Allele length
AssemblyAllele length
hg384634
hg194634
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv15650696, essv15650698, essv15650701, essv15650704, essv15650693, essv15650705, essv15650700, essv15650699, essv15650702, essv15650697, essv15650695, essv15650694, essv15650706, essv15650703
SamplesNA12843, HG00640, NA20321, HG00369, HG01069, HG01275, HG00154, NA20524, HG01498, HG01615, HG01073, HG00099, HG00734, HG01464
Known GenesTMEM11
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3640229
Frequency
Sample Size2504
Observed Gain0
Observed Loss14
Observed Complex0
Frequencyn/a


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