A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3616610



Internal ID6656806
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:22478157..22479251hg38UCSC Ensembl
Innerchr8:22478163..22479246hg38UCSC Ensembl
Outerchr8:22478152..22479257hg38UCSC Ensembl
chr8:22335670..22336764hg19UCSC Ensembl
Innerchr8:22335676..22336759hg19UCSC Ensembl
Outerchr8:22335665..22336770hg19UCSC Ensembl
Cytoband8p21.3
Allele length
AssemblyAllele length
hg381095
hg191095
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv13133488, essv13133484, essv13133487, essv13133485, essv13133486, essv13133482, essv13133483, essv13133489
SamplesHG02793, NA20868, HG00160, NA21120, HG01121, NA21126, NA20812, HG02728
Known GenesPPP3CC
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3616610
Frequency
Sample Size2504
Observed Gain0
Observed Loss8
Observed Complex0
Frequencyn/a


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