A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12966842



Internal ID3205434
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:129501314..129503363hg38UCSC Ensembl
Innerchr7:129501314..129503363hg38UCSC Ensembl
Outerchr7:129500959..129503714hg38UCSC Ensembl
chr7:129141155..129143204hg19UCSC Ensembl
Innerchr7:129141155..129143204hg19UCSC Ensembl
Outerchr7:129140800..129143555hg19UCSC Ensembl
Cytoband7q32.1
Allele length
AssemblyAllele length
hg382050
hg192050
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3614999
Supporting Variants
SamplesHG02813
Known GenesSMKR1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12966842
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