A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12525076



Internal ID1056408
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:121247797..121280304hg38UCSC Ensembl
Innerchr6:121248297..121279804hg38UCSC Ensembl
Outerchr6:121246797..121281304hg38UCSC Ensembl
chr6:121568943..121601450hg19UCSC Ensembl
Innerchr6:121569443..121600950hg19UCSC Ensembl
Outerchr6:121567943..121602450hg19UCSC Ensembl
Cytoband6q22.31
Allele length
AssemblyAllele length
hg3832508
hg1932508
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3610585
Supporting Variants
SamplesHG00675
Known GenesTBC1D32
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12525076
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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