A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3448834



Internal ID14949097
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:57930215..57936213hg38UCSC Ensembl
Innerchr6:57931215..57935213hg38UCSC Ensembl
Outerchr6:57929215..57937213hg38UCSC Ensembl
chr6:58256493..58262491hg19UCSC Ensembl
Innerchr6:58257493..58261491hg19UCSC Ensembl
Outerchr6:58255493..58263491hg19UCSC Ensembl
chr6:58364452..58370450hg18UCSC Ensembl
Innerchr6:58365452..58369450hg18UCSC Ensembl
Outerchr6:58363452..58371450hg18UCSC Ensembl
Cytoband6p11.2
Allele length
AssemblyAllele length
hg385999
hg195999
hg185999
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8695325
SamplesNA12878
Known GenesGUSBP4
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3448834
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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