A curated catalogue of human genomic structural variation




Variant Details

Variant: essv3706967



Internal ID11708217
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:202204293..202204293hg38UCSC Ensembl
chr1:202173421..202173421hg19UCSC Ensembl
chr1:200440044..200440044hg18UCSC Ensembl
Cytoband1q32.1
Allele length
AssemblyAllele length
hg3869
hg1969
hg1869
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1038842
Supporting Variants
SamplesHuRef
Known GenesLGR6
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)essv3706967
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer