A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10271186



Internal ID273002
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:205501990..205511958hg38UCSC Ensembl
Innerchr1:205502014..205511935hg38UCSC Ensembl
Outerchr1:205501967..205511982hg38UCSC Ensembl
chr1:205471118..205481086hg19UCSC Ensembl
Innerchr1:205471142..205481063hg19UCSC Ensembl
Outerchr1:205471095..205481110hg19UCSC Ensembl
Cytoband1q32.1
Allele length
AssemblyAllele length
hg389969
hg199969
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3588637
Supporting Variants
SamplesNA19395
Known GenesCDK18
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10271186
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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