A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12430702



Internal ID6431102
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:75936685..75992634hg38UCSC Ensembl
chr6:76646402..76702351hg19UCSC Ensembl
Cytoband6q14.1
Allele length
AssemblyAllele length
hg3855950
hg1955950
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3609583
Supporting Variants
SamplesNA20505
Known GenesIMPG1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12430702
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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