A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3589196



Internal ID6972131
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:235440161..235446359hg38UCSC Ensembl
Innerchr1:235440211..235446309hg38UCSC Ensembl
Outerchr1:235440105..235446415hg38UCSC Ensembl
chr1:235603476..235609674hg19UCSC Ensembl
Innerchr1:235603526..235609624hg19UCSC Ensembl
Outerchr1:235603420..235609730hg19UCSC Ensembl
Cytoband1q42.3
Allele length
AssemblyAllele length
hg386199
hg196199
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10332901
SamplesNA18612
Known GenesTBCE
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3589196
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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