A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2669305



Internal ID9935410
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:56234491..56237093hg38UCSC Ensembl
Outerchr2:56234334..56237246hg38UCSC Ensembl
Innerchr2:56461626..56464228hg19UCSC Ensembl
Outerchr2:56461469..56464381hg19UCSC Ensembl
Cytoband2p16.1
Allele length
AssemblyAllele length
hg382913
hg192913
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6378348
SamplesHG00614
Known GenesCCDC85A
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2669305
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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