A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16179878



Internal ID6181694
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:36907049..36911170hg38UCSC Ensembl
Innerchr20:36907049..36911170hg38UCSC Ensembl
Outerchr20:36906956..36911332hg38UCSC Ensembl
chr20:35535452..35539573hg19UCSC Ensembl
Innerchr20:35535452..35539573hg19UCSC Ensembl
Outerchr20:35535359..35539735hg19UCSC Ensembl
Cytoband20q11.23
Allele length
AssemblyAllele length
hg384122
hg194122
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3645747
Supporting Variants
SamplesHG01894
Known GenesSAMHD1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv16179878
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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