A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9841973



Internal ID6467266
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:3585575..4260083hg38UCSC Ensembl
Innerchr1:3585725..4259933hg38UCSC Ensembl
Outerchr1:3585425..4260233hg38UCSC Ensembl
chr1:3502139..4320143hg19UCSC Ensembl
Innerchr1:3502289..4319993hg19UCSC Ensembl
Outerchr1:3501989..4320293hg19UCSC Ensembl
Cytoband1p36.32
Allele length
AssemblyAllele length
hg38674509
hg19818005
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3585042
Supporting Variants
SamplesHG02481
Known GenesC1orf174, CCDC27, CEP104, DFFB, LINC01134, LOC728716, LRRC47, MEGF6, SMIM1, TP73, TP73-AS1, TPRG1L, WRAP73
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv9841973
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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