A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12929488



Internal ID4033724
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:112016186..112080430hg38UCSC Ensembl
Innerchr7:112016218..112080398hg38UCSC Ensembl
Outerchr7:112016154..112080462hg38UCSC Ensembl
chr7:111656241..111720485hg19UCSC Ensembl
Innerchr7:111656273..111720453hg19UCSC Ensembl
Outerchr7:111656209..111720517hg19UCSC Ensembl
Cytoband7q31.1
Allele length
AssemblyAllele length
hg3864245
hg1964245
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3614614
Supporting Variants
SamplesHG03685
Known GenesDOCK4
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12929488
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