A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16180414



Internal ID6182230
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:37997446..37998505hg38UCSC Ensembl
Innerchr20:37997449..37998503hg38UCSC Ensembl
Outerchr20:37997444..37998508hg38UCSC Ensembl
chr20:36625848..36626907hg19UCSC Ensembl
Innerchr20:36625851..36626905hg19UCSC Ensembl
Outerchr20:36625846..36626910hg19UCSC Ensembl
Cytoband20q11.23
Allele length
AssemblyAllele length
hg381060
hg191060
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3645770
Supporting Variants
SamplesHG00382
Known GenesTTI1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv16180414
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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