A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3608481



Internal ID6648719
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:29574105..29588099hg38UCSC Ensembl
Innerchr6:29574255..29587949hg38UCSC Ensembl
Outerchr6:29573955..29588249hg38UCSC Ensembl
chr6:29541882..29555876hg19UCSC Ensembl
Innerchr6:29542032..29555726hg19UCSC Ensembl
Outerchr6:29541732..29556026hg19UCSC Ensembl
Cytoband6p22.1
Allele length
AssemblyAllele length
hg3813995
hg1913995
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv12240105, essv12240104, essv12240110, essv12240108, essv12240109, essv12240106, essv12240107
SamplesHG00127, HG02977, NA18507, HG02851, HG03974, HG02923, HG03105
Known GenesOR2H2, SNORD32B
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3608481
Frequency
Sample Size2504
Observed Gain0
Observed Loss7
Observed Complex0
Frequencyn/a


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