A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3588569



Internal ID6628861
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:201307203..201312378hg38UCSC Ensembl
Innerchr1:201307353..201312228hg38UCSC Ensembl
Outerchr1:201307053..201312528hg38UCSC Ensembl
chr1:201276331..201281506hg19UCSC Ensembl
Innerchr1:201276481..201281356hg19UCSC Ensembl
Outerchr1:201276181..201281656hg19UCSC Ensembl
Cytoband1q32.1
Allele length
AssemblyAllele length
hg385176
hg195176
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10264973, essv10264974
SamplesHG01188, HG00306
Known GenesPKP1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3588569
Frequency
Sample Size2504
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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