A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10207575



Internal ID5558001
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:182203948..182218948hg38UCSC Ensembl
Innerchr1:182203980..182218917hg38UCSC Ensembl
Outerchr1:182203917..182218980hg38UCSC Ensembl
chr1:182173083..182188083hg19UCSC Ensembl
Innerchr1:182173115..182188052hg19UCSC Ensembl
Outerchr1:182173052..182188115hg19UCSC Ensembl
Cytoband1q25.3
Allele length
AssemblyAllele length
hg3815001
hg1915001
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3588097
Supporting Variants
SamplesNA19009
Known GenesLOC400799
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10207575
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