A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10989204



Internal ID3162957
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:40397251..40401032hg38UCSC Ensembl
Innerchr3:40397251..40401032hg38UCSC Ensembl
Outerchr3:40397060..40401101hg38UCSC Ensembl
chr3:40438742..40442523hg19UCSC Ensembl
Innerchr3:40438742..40442523hg19UCSC Ensembl
Outerchr3:40438551..40442592hg19UCSC Ensembl
Cytoband3p22.1
Allele length
AssemblyAllele length
hg383782
hg193782
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3595949
Supporting Variants
SamplesHG02784
Known GenesENTPD3, ENTPD3-AS1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10989204
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