A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10166339



Internal ID168155
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:159834085..159837884hg38UCSC Ensembl
chr1:159803875..159807674hg19UCSC Ensembl
Cytoband1q23.2
Allele length
AssemblyAllele length
hg383800
hg193800
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3587702
Supporting Variants
SamplesHG03684
Known GenesC1orf204, SLAMF8
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10166339
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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