A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10152265



Internal ID6318181
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:155545764..155549437hg38UCSC Ensembl
Innerchr1:155545780..155549421hg38UCSC Ensembl
Outerchr1:155545748..155549453hg38UCSC Ensembl
chr1:155515555..155519228hg19UCSC Ensembl
Innerchr1:155515571..155519212hg19UCSC Ensembl
Outerchr1:155515539..155519244hg19UCSC Ensembl
Cytoband1q22
Allele length
AssemblyAllele length
hg383674
hg193674
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3587626
Supporting Variants
SamplesNA19917
Known GenesASH1L
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10152265
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