A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3644819



Internal ID6684883
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:54827387..54843826hg38UCSC Ensembl
chr19:55338842..55355281hg19UCSC Ensembl
Cytoband19q13.42
Allele length
AssemblyAllele length
hg3816440
hg1916440
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv16100198, essv16100197, essv16100205, essv16100204, essv16100206, essv16100203, essv16100199, essv16100195, essv16100202, essv16100200, essv16100207, essv16100201, essv16100196
SamplesHG02023, HG03401, NA19239, NA19323, NA19056, NA19189, HG02449, NA19238, HG00560, HG02573, HG02629, NA19099, HG00128
Known GenesKIR2DS4, KIR3DL1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3644819
Frequency
Sample Size2504
Observed Gain13
Observed Loss0
Observed Complex0
Frequencyn/a


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