A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3610536



Internal ID6997453
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 State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv12519947, essv12519946, essv12519945, essv12519943, essv12519944, essv12519941, essv12519942
SamplesNA20853, HG03796, HG04070, HG02786, NA20862, HG03951, HG02031
Known GenesMAN1A1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3610536
Frequency
Sample Size2504
Observed Gain0
Observed Loss7
Observed Complex0
Frequencyn/a


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