A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3595515



Internal ID6982833
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:21573773..21575124hg38UCSC Ensembl
Innerchr3:21573773..21575124hg38UCSC Ensembl
Outerchr3:21573554..21575224hg38UCSC Ensembl
chr3:21615265..21616616hg19UCSC Ensembl
Innerchr3:21615265..21616616hg19UCSC Ensembl
Outerchr3:21615046..21616716hg19UCSC Ensembl
Cytoband3p24.3
Allele length
AssemblyAllele length
hg381352
hg191352
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10947470, essv10947469, essv10947465, essv10947467, essv10947471, essv10947472, essv10947466, essv10947464, essv10947468
SamplesHG02944, HG03199, HG03079, HG03085, HG03446, HG01253, NA18865, HG03049, HG03445
Known GenesZNF385D
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3595515
Frequency
Sample Size2504
Observed Gain0
Observed Loss9
Observed Complex0
Frequencyn/a


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