A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3608828



Internal ID6649061
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:44332981..44345939hg38UCSC Ensembl
Innerchr6:44332981..44345939hg38UCSC Ensembl
Outerchr6:44332481..44346439hg38UCSC Ensembl
chr6:44300718..44313676hg19UCSC Ensembl
Innerchr6:44300718..44313676hg19UCSC Ensembl
Outerchr6:44300218..44314176hg19UCSC Ensembl
Cytoband6p21.1
Allele length
AssemblyAllele length
hg3812959
hg1912959
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv12332882
SamplesNA19764
Known GenesSPATS1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3608828
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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