A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12674636



Internal ID2902726
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:7371630..7374068hg38UCSC Ensembl
Innerchr7:7371643..7374055hg38UCSC Ensembl
Outerchr7:7371617..7374081hg38UCSC Ensembl
chr7:7411261..7413699hg19UCSC Ensembl
Innerchr7:7411274..7413686hg19UCSC Ensembl
Outerchr7:7411248..7413712hg19UCSC Ensembl
Cytoband7p21.3
Allele length
AssemblyAllele length
hg382439
hg192439
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3612077
Supporting Variants
SamplesHG02573
Known GenesCOL28A1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12674636
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