A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3643958



Internal ID6684027
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:22596307..22597674hg38UCSC Ensembl
Innerchr19:22596307..22597674hg38UCSC Ensembl
Outerchr19:22595946..22597945hg38UCSC Ensembl
chr19:22779109..22780476hg19UCSC Ensembl
Innerchr19:22779109..22780476hg19UCSC Ensembl
Outerchr19:22778748..22780747hg19UCSC Ensembl
Cytoband19p12
Allele length
AssemblyAllele length
hg381368
hg191368
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv16013670, essv16013679, essv16013667, essv16013675, essv16013666, essv16013669, essv16013663, essv16013662, essv16013665, essv16013664, essv16013678, essv16013672, essv16013682, essv16013673, essv16013658, essv16013661, essv16013674, essv16013668, essv16013660, essv16013681, essv16013659, essv16013657, essv16013677, essv16013680, essv16013671, essv16013676, essv16013683
SamplesHG01885, HG03175, NA18881, HG02891, HG02323, HG03190, HG03577, HG02895, NA19107, NA18519, HG02485, NA18923, HG03370, NA19131, HG02981, NA18520, HG03085, HG02309, HG02594, HG01990, HG02722, NA19308, HG02010, HG02771, NA20357, HG02107, HG02768
Known GenesLOC440518
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3643958
Frequency
Sample Size2504
Observed Gain0
Observed Loss27
Observed Complex0
Frequencyn/a


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