A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12601517



Internal ID3726191
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:157121848..157122917hg38UCSC Ensembl
Innerchr6:157121848..157122917hg38UCSC Ensembl
Outerchr6:157121512..157123220hg38UCSC Ensembl
chr6:157442982..157444051hg19UCSC Ensembl
Innerchr6:157442982..157444051hg19UCSC Ensembl
Outerchr6:157442646..157444354hg19UCSC Ensembl
Cytoband6q25.3
Allele length
AssemblyAllele length
hg381070
hg191070
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3611373
Supporting Variants
SamplesHG03354
Known GenesARID1B
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12601517
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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