A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16057098



Internal ID6829197
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:42847842..42889626hg38UCSC Ensembl
Innerchr19:42848342..42889126hg38UCSC Ensembl
Outerchr19:42846842..42890626hg38UCSC Ensembl
chr19:43351994..43393778hg19UCSC Ensembl
Innerchr19:43352494..43393278hg19UCSC Ensembl
Outerchr19:43350994..43394778hg19UCSC Ensembl
Cytoband19q13.2
Allele length
AssemblyAllele length
hg3841785
hg1941785
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3644417
Supporting Variants
SamplesNA20903
Known GenesPSG1, PSG10P
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv16057098
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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