A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12332885



Internal ID4804928
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 StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3608829
Supporting Variants
SamplesNA11992
Known GenesSPATS1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12332885
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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