A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12584997



Internal ID4785380
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:151542989..151550006hg38UCSC Ensembl
Innerchr6:151543039..151549956hg38UCSC Ensembl
Outerchr6:151542939..151550056hg38UCSC Ensembl
chr6:151864124..151871141hg19UCSC Ensembl
Innerchr6:151864174..151871091hg19UCSC Ensembl
Outerchr6:151864074..151871191hg19UCSC Ensembl
Cytoband6q25.1
Allele length
AssemblyAllele length
hg387018
hg197018
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3611268
Supporting Variants
SamplesNA11918
Known GenesCCDC170
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12584997
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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