A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3587852



Internal ID6628152
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:167735812..167738308hg38UCSC Ensembl
Innerchr1:167735829..167738292hg38UCSC Ensembl
Outerchr1:167735796..167738325hg38UCSC Ensembl
chr1:167705049..167707545hg19UCSC Ensembl
Innerchr1:167705066..167707529hg19UCSC Ensembl
Outerchr1:167705033..167707562hg19UCSC Ensembl
Cytoband1q24.2
Allele length
AssemblyAllele length
hg382497
hg192497
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10181846
SamplesHG01139
Known GenesMPZL1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3587852
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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