A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3640427



Internal ID7027202
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:34645235..34646517hg38UCSC Ensembl
Innerchr17:34645240..34646512hg38UCSC Ensembl
Outerchr17:34645230..34646522hg38UCSC Ensembl
chr17:32972254..32973536hg19UCSC Ensembl
Innerchr17:32972259..32973531hg19UCSC Ensembl
Outerchr17:32972249..32973541hg19UCSC Ensembl
Cytoband17q12
Allele length
AssemblyAllele length
hg381283
hg191283
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv15663992, essv15663989, essv15663993, essv15663990, essv15663995, essv15663994, essv15663991
SamplesNA18502, HG02895, NA18874, HG02322, NA18873, HG02629, HG02760
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3640427
Frequency
Sample Size2504
Observed Gain0
Observed Loss7
Observed Complex0
Frequencyn/a


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