A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3597164



Internal ID6984478
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:100022539..100038075hg38UCSC Ensembl
Innerchr3:100023039..100037575hg38UCSC Ensembl
Outerchr3:100021539..100039075hg38UCSC Ensembl
chr3:99741383..99756919hg19UCSC Ensembl
Innerchr3:99741883..99756419hg19UCSC Ensembl
Outerchr3:99740383..99757919hg19UCSC Ensembl
Cytoband3q12.1
Allele length
AssemblyAllele length
hg3815537
hg1915537
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv11083855
SamplesHG01055
Known GenesCMSS1, FILIP1L
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3597164
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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