A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3589211



Internal ID6972146
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:236199568..236202773hg38UCSC Ensembl
Innerchr1:236199571..236202771hg38UCSC Ensembl
Outerchr1:236199566..236202776hg38UCSC Ensembl
chr1:236362868..236366073hg19UCSC Ensembl
Innerchr1:236362871..236366071hg19UCSC Ensembl
Outerchr1:236362866..236366076hg19UCSC Ensembl
Cytoband1q42.3
Allele length
AssemblyAllele length
hg383206
hg193206
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10334887, essv10334886, essv10334883, essv10334891, essv10334899, essv10334888, essv10334882, essv10334880, essv10334890, essv10334898, essv10334896, essv10334892, essv10334893, essv10334897, essv10334881, essv10334889, essv10334895, essv10334894, essv10334884, essv10334885
SamplesNA19222, NA18486, HG03168, HG02952, HG02054, HG02981, HG01312, HG03169, NA19210, HG03511, HG01889, HG01890, HG01956, HG02667, NA19108, NA18865, HG02974, HG02013, NA18488, HG03271
Known GenesGPR137B
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3589211
Frequency
Sample Size2504
Observed Gain0
Observed Loss20
Observed Complex0
Frequencyn/a


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