A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12240064



Internal ID5481041
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:29160738..29366778hg38UCSC Ensembl
Innerchr6:29160888..29366628hg38UCSC Ensembl
Outerchr6:29160588..29366928hg38UCSC Ensembl
chr6:29128515..29334555hg19UCSC Ensembl
Innerchr6:29128665..29334405hg19UCSC Ensembl
Outerchr6:29128365..29334705hg19UCSC Ensembl
Cytoband6p22.1
Allele length
AssemblyAllele length
hg38206041
hg19206041
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3608473
Supporting Variants
SamplesNA18977
Known GenesOR14J1, OR2J2, OR5V1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12240064
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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