A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3595949



Internal ID6983267
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 State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10989205, essv10989208, essv10989207, essv10989206, essv10989204
SamplesHG02944, HG02784, HG03515, HG03159, HG03886
Known GenesENTPD3, ENTPD3-AS1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3595949
Frequency
Sample Size2504
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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