A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3585409



Internal ID6972933
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:19984253..19985539hg38UCSC Ensembl
Innerchr1:19984261..19985532hg38UCSC Ensembl
Outerchr1:19984246..19985547hg38UCSC Ensembl
chr1:20310746..20312032hg19UCSC Ensembl
Innerchr1:20310754..20312025hg19UCSC Ensembl
Outerchr1:20310739..20312040hg19UCSC Ensembl
Cytoband1p36.13
Allele length
AssemblyAllele length
hg381287
hg191287
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9879570, essv9879572, essv9879571
SamplesNA18939, HG03117, HG03157
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3585409
Frequency
Sample Size2504
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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