A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3610773



Internal ID6997690
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:129609533..129609998hg38UCSC Ensembl
Innerchr6:129609533..129609998hg38UCSC Ensembl
Outerchr6:129609291..129610321hg38UCSC Ensembl
chr6:129930678..129931143hg19UCSC Ensembl
Innerchr6:129930678..129931143hg19UCSC Ensembl
Outerchr6:129930436..129931466hg19UCSC Ensembl
Cytoband6q22.33
Allele length
AssemblyAllele length
hg38466
hg19466
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv12546190, essv12546188, essv12546178, essv12546185, essv12546193, essv12546183, essv12546180, essv12546187, essv12546184, essv12546197, essv12546198, essv12546189, essv12546181, essv12546186, essv12546194, essv12546195, essv12546191, essv12546196, essv12546182, essv12546179, essv12546192
SamplesHG03559, HG02816, HG03556, HG03048, HG03575, HG01049, HG03563, NA19118, HG02881, HG03024, NA19099, HG02585, HG02722, HG03064, HG02330, HG02759, HG03419, HG03258, HG03445, HG02855, HG02465
Known GenesARHGAP18
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3610773
Frequency
Sample Size2504
Observed Gain0
Observed Loss21
Observed Complex0
Frequencyn/a


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