A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10264973



Internal ID266789
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 StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3588569
Supporting Variants
SamplesHG00306
Known GenesPKP1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10264973
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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