A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3595367



Internal ID6982685
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:14343528..14350725hg38UCSC Ensembl
Innerchr3:14343539..14350715hg38UCSC Ensembl
Outerchr3:14343518..14350736hg38UCSC Ensembl
chr3:14385028..14392225hg19UCSC Ensembl
Innerchr3:14385039..14392215hg19UCSC Ensembl
Outerchr3:14385018..14392236hg19UCSC Ensembl
Cytoband3p25.1
Allele length
AssemblyAllele length
hg387198
hg197198
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10932578, essv10932573, essv10932581, essv10932576, essv10932580, essv10932575, essv10932574, essv10932577, essv10932579
SamplesNA18486, HG02334, HG01498, HG03388, NA19320, NA19434, HG03458, NA19248, NA19474
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3595367
Frequency
Sample Size2504
Observed Gain0
Observed Loss9
Observed Complex0
Frequencyn/a


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