A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3597384



Internal ID6984612
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:111073649..111077426hg38UCSC Ensembl
chr3:110792496..110796273hg19UCSC Ensembl
Cytoband3q13.13
Allele length
AssemblyAllele length
hg383778
hg193778
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv11099844, essv11099836, essv11099842, essv11099837, essv11099835, essv11099846, essv11099838, essv11099848, essv11099840, essv11099841, essv11099834, essv11099850, essv11099839, essv11099832, essv11099833, essv11099849, essv11099843, essv11099845, essv11099847
SamplesHG02658, HG01537, HG01465, HG01518, HG01503, HG01519, HG03832, HG01871, HG01104, HG01311, HG02649, NA19752, HG01572, NA12272, NA20906, NA20897, HG03611, HG03698, HG01695
Known GenesPVRL3
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3597384
Frequency
Sample Size2504
Observed Gain0
Observed Loss19
Observed Complex0
Frequencyn/a


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