A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3639779



Internal ID7026557
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:4412812..4481920hg38UCSC Ensembl
Innerchr17:4412962..4481770hg38UCSC Ensembl
Outerchr17:4412662..4482070hg38UCSC Ensembl
chr17:4316107..4385215hg19UCSC Ensembl
Innerchr17:4316257..4385065hg19UCSC Ensembl
Outerchr17:4315957..4385365hg19UCSC Ensembl
Cytoband17p13.2
Allele length
AssemblyAllele length
hg3869109
hg1969109
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv15595076, essv15595077, essv15595074, essv15595075
SamplesHG02078, HG01806, HG02379, NA19223
Known GenesSPNS3
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3639779
Frequency
Sample Size2504
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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