A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12430704



Internal ID6431114
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:75956639..75966935hg38UCSC Ensembl
chr6:76666356..76676652hg19UCSC Ensembl
Cytoband6q14.1
Allele length
AssemblyAllele length
hg3810297
hg1910297
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3609585
Supporting Variants
SamplesNA20505
Known GenesIMPG1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12430704
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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