A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16176719



Internal ID6156258
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:34424649..34429161hg38UCSC Ensembl
Innerchr20:34424649..34429161hg38UCSC Ensembl
Outerchr20:34424495..34429319hg38UCSC Ensembl
chr20:33012455..33016967hg19UCSC Ensembl
Innerchr20:33012455..33016967hg19UCSC Ensembl
Outerchr20:33012301..33017125hg19UCSC Ensembl
Cytoband20q11.22
Allele length
AssemblyAllele length
hg384513
hg194513
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3645700
Supporting Variants
SamplesNA19700
Known GenesITCH
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv16176719
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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