A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8741229



Internal ID14741850
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:160219098..160219235hg38UCSC Ensembl
Innerchr6:160219148..160219185hg38UCSC Ensembl
Outerchr6:160219048..160219285hg38UCSC Ensembl
chr6:160640130..160640267hg19UCSC Ensembl
Innerchr6:160640180..160640217hg19UCSC Ensembl
Outerchr6:160640080..160640317hg19UCSC Ensembl
chr6:160560120..160560257hg18UCSC Ensembl
Innerchr6:160560170..160560207hg18UCSC Ensembl
Outerchr6:160560070..160560307hg18UCSC Ensembl
Cytoband6q25.3
Allele length
AssemblyAllele length
hg38138
hg19138
hg18138
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3411449
Supporting Variants
SamplesNA19240
Known GenesSLC22A2
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8741229
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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