A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3644382



Internal ID7031137
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:41466726..41502300hg38UCSC Ensembl
Innerchr19:41466876..41502150hg38UCSC Ensembl
Outerchr19:41466576..41502450hg38UCSC Ensembl
chr19:41972631..42008216hg19UCSC Ensembl
Innerchr19:41972781..42008066hg19UCSC Ensembl
Outerchr19:41972481..42008366hg19UCSC Ensembl
Cytoband19q13.2
Allele length
AssemblyAllele length
hg3835575
hg1935586
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv16056083, essv16056088, essv16056079, essv16056085, essv16056078, essv16056090, essv16056086, essv16056082, essv16056077, essv16056089, essv16056084, essv16056087, essv16056080, essv16056081
SamplesHG03484, NA18861, NA19446, HG02811, NA19456, HG03363, NA19184, NA19320, NA19401, HG02982, HG02839, NA19475, HG03410, HG02805
Known GenesLOC100505495
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3644382
Frequency
Sample Size2504
Observed Gain0
Observed Loss14
Observed Complex0
Frequencyn/a


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