A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16005690



Internal ID6007506
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:19292088..19293858hg38UCSC Ensembl
Innerchr19:19292138..19293808hg38UCSC Ensembl
Outerchr19:19292028..19293918hg38UCSC Ensembl
chr19:19402897..19404667hg19UCSC Ensembl
Innerchr19:19402947..19404617hg19UCSC Ensembl
Outerchr19:19402837..19404727hg19UCSC Ensembl
Cytoband19p13.11
Allele length
AssemblyAllele length
hg381771
hg191771
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3643847
Supporting Variants
SamplesHG02882
Known GenesSUGP1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv16005690
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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