A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10168241



Internal ID1067018
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:160823381..160825387hg38UCSC Ensembl
Innerchr1:160823381..160825387hg38UCSC Ensembl
Outerchr1:160823127..160825624hg38UCSC Ensembl
chr1:160793171..160795177hg19UCSC Ensembl
Innerchr1:160793171..160795177hg19UCSC Ensembl
Outerchr1:160792917..160795414hg19UCSC Ensembl
Cytoband1q23.3
Allele length
AssemblyAllele length
hg382007
hg192007
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3587718
Supporting Variants
SamplesHG00692
Known GenesLY9
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10168241
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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