A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12666950



Internal ID3301583
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:1704891..1713240hg38UCSC Ensembl
Innerchr7:1705391..1712740hg38UCSC Ensembl
Outerchr7:1703891..1714240hg38UCSC Ensembl
chr7:1744527..1752876hg19UCSC Ensembl
Innerchr7:1745027..1752376hg19UCSC Ensembl
Outerchr7:1743527..1753876hg19UCSC Ensembl
Cytoband7p22.3
Allele length
AssemblyAllele length
hg388350
hg198350
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3611817
Supporting Variants
SamplesHG02943
Known GenesELFN1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12666950
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