A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3588115



Internal ID6975539
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:183613260..183619263hg38UCSC Ensembl
Innerchr1:183613309..183619214hg38UCSC Ensembl
Outerchr1:183613211..183619312hg38UCSC Ensembl
chr1:183582395..183588398hg19UCSC Ensembl
Innerchr1:183582444..183588349hg19UCSC Ensembl
Outerchr1:183582346..183588447hg19UCSC Ensembl
Cytoband1q25.3
Allele length
AssemblyAllele length
hg386004
hg196004
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10208560, essv10208567, essv10208563, essv10208572, essv10208562, essv10208573, essv10208570, essv10208571, essv10208568, essv10208566, essv10208564, essv10208561, essv10208569, essv10208565
SamplesHG01462, NA19443, NA18874, NA18868, HG04106, NA18864, NA18867, HG02716, HG03078, HG03571, NA19474, NA19116, NA19316, HG02808
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3588115
Frequency
Sample Size2504
Observed Gain0
Observed Loss14
Observed Complex0
Frequencyn/a


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