A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2667670



Internal ID9933775
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:36173335..36179494hg38UCSC Ensembl
Outerchr7:36173298..36179544hg38UCSC Ensembl
Innerchr7:36212944..36219103hg19UCSC Ensembl
Outerchr7:36212907..36219153hg19UCSC Ensembl
Cytoband7p14.2
Allele length
AssemblyAllele length
hg386247
hg196247
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6018194
SamplesHG00442
Known GenesEEPD1
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2667670
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