A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3608829



Internal ID6995753
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:44369765..44371175hg38UCSC Ensembl
Innerchr6:44369765..44371175hg38UCSC Ensembl
Outerchr6:44369612..44371308hg38UCSC Ensembl
chr6:44337502..44338912hg19UCSC Ensembl
Innerchr6:44337502..44338912hg19UCSC Ensembl
Outerchr6:44337349..44339045hg19UCSC Ensembl
Cytoband6p21.1
Allele length
AssemblyAllele length
hg381411
hg191411
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv12332883, essv12332885, essv12332884, essv12332886
SamplesNA11830, NA11992, HG01383, NA20763
Known GenesSPATS1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3608829
Frequency
Sample Size2504
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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