A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10167785



Internal ID3498833
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:160314361..160318824hg38UCSC Ensembl
Innerchr1:160314376..160318810hg38UCSC Ensembl
Outerchr1:160314347..160318839hg38UCSC Ensembl
chr1:160284151..160288614hg19UCSC Ensembl
Innerchr1:160284166..160288600hg19UCSC Ensembl
Outerchr1:160284137..160288629hg19UCSC Ensembl
Cytoband1q23.2
Allele length
AssemblyAllele length
hg384464
hg194464
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3587712
Supporting Variants
SamplesHG03108
Known GenesCOPA, SUMO1P3
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10167785
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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