A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9924600



Internal ID6549893
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:44068180..44079749hg38UCSC Ensembl
Innerchr1:44068207..44079723hg38UCSC Ensembl
Outerchr1:44068154..44079776hg38UCSC Ensembl
chr1:44533852..44545421hg19UCSC Ensembl
Innerchr1:44533879..44545395hg19UCSC Ensembl
Outerchr1:44533826..44545448hg19UCSC Ensembl
Cytoband1p34.1
Allele length
AssemblyAllele length
hg3811570
hg1911570
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3585876
Supporting Variants
SamplesHG02406
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv9924600
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