A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3639863



Internal ID6679953
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:7280422..7290803hg38UCSC Ensembl
Innerchr17:7280422..7290803hg38UCSC Ensembl
Outerchr17:7279922..7291303hg38UCSC Ensembl
chr17:7183741..7194122hg19UCSC Ensembl
Innerchr17:7183741..7194122hg19UCSC Ensembl
Outerchr17:7183241..7194622hg19UCSC Ensembl
Cytoband17p13.1
Allele length
AssemblyAllele length
hg3810382
hg1910382
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv15604124, essv15604123
SamplesHG00369, HG02489
Known GenesSLC2A4, YBX2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3639863
Frequency
Sample Size2504
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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