A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3595736



Internal ID6983054
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:30432742..30479419hg38UCSC Ensembl
Innerchr3:30432742..30479419hg38UCSC Ensembl
Outerchr3:30432242..30479919hg38UCSC Ensembl
chr3:30474234..30520911hg19UCSC Ensembl
Innerchr3:30474234..30520911hg19UCSC Ensembl
Outerchr3:30473734..30521411hg19UCSC Ensembl
Cytoband3p24.1
Allele length
AssemblyAllele length
hg3846678
hg1946678
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10968975, essv10968976
SamplesHG02561, HG02573
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3595736
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