A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12430294



Internal ID4838387
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:75445698..75451638hg38UCSC Ensembl
Innerchr6:75445709..75451628hg38UCSC Ensembl
Outerchr6:75445688..75451649hg38UCSC Ensembl
chr6:76155414..76161354hg19UCSC Ensembl
Innerchr6:76155425..76161344hg19UCSC Ensembl
Outerchr6:76155404..76161365hg19UCSC Ensembl
Cytoband6q14.1
Allele length
AssemblyAllele length
hg385941
hg195941
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3609574
Supporting Variants
SamplesNA12154
Known GenesFILIP1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12430294
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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