A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3585432



Internal ID6625751
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:20970061..20971738hg38UCSC Ensembl
Innerchr1:20970065..20971735hg38UCSC Ensembl
Outerchr1:20970058..20971742hg38UCSC Ensembl
chr1:21296554..21298231hg19UCSC Ensembl
Innerchr1:21296558..21298228hg19UCSC Ensembl
Outerchr1:21296551..21298235hg19UCSC Ensembl
Cytoband1p36.12
Allele length
AssemblyAllele length
hg381678
hg191678
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9883250, essv9883252, essv9883251, essv9883249
SamplesNA20896, HG03775, HG03021, HG03631
Known GenesEIF4G3
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3585432
Frequency
Sample Size2504
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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