A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12519943



Internal ID4221412
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:119211501..119244785hg38UCSC Ensembl
Innerchr6:119212001..119244285hg38UCSC Ensembl
Outerchr6:119210501..119245785hg38UCSC Ensembl
chr6:119532666..119565950hg19UCSC Ensembl
Innerchr6:119533166..119565450hg19UCSC Ensembl
Outerchr6:119531666..119566950hg19UCSC Ensembl
Cytoband6q22.31
Allele length
AssemblyAllele length
hg3833285
hg1933285
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3610536
Supporting Variants
SamplesHG03796
Known GenesMAN1A1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12519943
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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