A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3585417



Internal ID6625736
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:20172265..20174165hg38UCSC Ensembl
Innerchr1:20172265..20174165hg38UCSC Ensembl
Outerchr1:20172106..20174367hg38UCSC Ensembl
chr1:20498758..20500658hg19UCSC Ensembl
Innerchr1:20498758..20500658hg19UCSC Ensembl
Outerchr1:20498599..20500860hg19UCSC Ensembl
Cytoband1p36.12
Allele length
AssemblyAllele length
hg381901
hg191901
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9881646, essv9881648, essv9881649, essv9881647
SamplesHG03139, NA19121, NA18505, HG03166
Known GenesPLA2G2C
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3585417
Frequency
Sample Size2504
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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