A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12841028



Internal ID1406431
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:73417177..73418772hg38UCSC Ensembl
Innerchr7:73417224..73418725hg38UCSC Ensembl
Outerchr7:73417130..73418819hg38UCSC Ensembl
chr7:72831507..72833102hg19UCSC Ensembl
Innerchr7:72831554..72833055hg19UCSC Ensembl
Outerchr7:72831460..72833149hg19UCSC Ensembl
Cytoband7q11.23
Allele length
AssemblyAllele length
hg381596
hg191596
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3613685
Supporting Variants
SamplesHG01275
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12841028
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