A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10200142



Internal ID3424781
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:179961909..179970533hg38UCSC Ensembl
Innerchr1:179961930..179970512hg38UCSC Ensembl
Outerchr1:179961888..179970554hg38UCSC Ensembl
chr1:179931044..179939668hg19UCSC Ensembl
Innerchr1:179931065..179939647hg19UCSC Ensembl
Outerchr1:179931023..179939689hg19UCSC Ensembl
Cytoband1q25.2
Allele length
AssemblyAllele length
hg388625
hg198625
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3588061
Supporting Variants
SamplesHG03061
Known GenesCEP350
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10200142
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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