A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12674630



Internal ID5722212
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:7347896..7393238hg38UCSC Ensembl
Innerchr7:7347896..7393238hg38UCSC Ensembl
Outerchr7:7347396..7393738hg38UCSC Ensembl
chr7:7387527..7432869hg19UCSC Ensembl
Innerchr7:7387527..7432869hg19UCSC Ensembl
Outerchr7:7387027..7433369hg19UCSC Ensembl
Cytoband7p21.3
Allele length
AssemblyAllele length
hg3845343
hg1945343
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3612075
Supporting Variants
SamplesNA19099
Known GenesCOL28A1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12674630
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