A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3644380



Internal ID6684447
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:41443924..41501183hg38UCSC Ensembl
chr19:41949829..42007093hg19UCSC Ensembl
Cytoband19q13.2
Allele length
AssemblyAllele length
hg3857260
hg1957265
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv16056065, essv16056067, essv16056063, essv16056068, essv16056056, essv16056060, essv16056061, essv16056062, essv16056069, essv16056059, essv16056064, essv16056058, essv16056057, essv16056066
SamplesHG03484, NA18861, NA19446, HG02811, NA19456, HG03363, NA19184, NA19320, NA19401, HG02982, HG02839, NA19475, HG03410, HG02805
Known GenesC19orf69, LOC100505495
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3644380
Frequency
Sample Size2504
Observed Gain0
Observed Loss14
Observed Complex0
Frequencyn/a


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