A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11397812



Internal ID1399628
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:38795937..38796728hg38UCSC Ensembl
Innerchr4:38795944..38796721hg38UCSC Ensembl
Outerchr4:38795930..38796735hg38UCSC Ensembl
chr4:38797558..38798349hg19UCSC Ensembl
Innerchr4:38797565..38798342hg19UCSC Ensembl
Outerchr4:38797551..38798356hg19UCSC Ensembl
Cytoband4p14
Allele length
AssemblyAllele length
hg38792
hg19792
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3600264
Supporting Variants
SamplesHG01799
Known GenesTLR1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11397812
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