A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3643409



Internal ID6683484
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:1797503..1799741hg38UCSC Ensembl
Innerchr19:1797512..1799732hg38UCSC Ensembl
Outerchr19:1797494..1799750hg38UCSC Ensembl
chr19:1797502..1799740hg19UCSC Ensembl
Innerchr19:1797511..1799731hg19UCSC Ensembl
Outerchr19:1797493..1799749hg19UCSC Ensembl
Cytoband19p13.3
Allele length
AssemblyAllele length
hg382239
hg192239
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv15968155, essv15968145, essv15968143, essv15968149, essv15968144, essv15968140, essv15968148, essv15968146, essv15968150, essv15968151, essv15968139, essv15968137, essv15968152, essv15968141, essv15968142, essv15968156, essv15968138, essv15968153, essv15968147, essv15968154
SamplesNA20274, HG02419, HG02536, HG02769, HG03436, HG01393, HG03212, NA19385, HG03160, HG01889, NA19017, NA19401, NA19375, NA19019, NA19037, HG02317, NA19328, NA19438, NA19430, HG02629
Known GenesATP8B3
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3643409
Frequency
Sample Size2504
Observed Gain0
Observed Loss20
Observed Complex0
Frequencyn/a


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