A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3585414



Internal ID6625733
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:20148934..20150440hg38UCSC Ensembl
Innerchr1:20148950..20150424hg38UCSC Ensembl
Outerchr1:20148918..20150456hg38UCSC Ensembl
chr1:20475427..20476933hg19UCSC Ensembl
Innerchr1:20475443..20476917hg19UCSC Ensembl
Outerchr1:20475411..20476949hg19UCSC Ensembl
Cytoband1p36.12
Allele length
AssemblyAllele length
hg381507
hg191507
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9879642
SamplesHG03279
Known GenesPLA2G2F
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3585414
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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