A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3339265



Internal ID15186252
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:85238007..85238017hg38UCSC Ensembl
Innerchr6:85238001..85238021hg38UCSC Ensembl
Outerchr6:85237991..85238031hg38UCSC Ensembl
chr6:85947725..85947735hg19UCSC Ensembl
Innerchr6:85947719..85947739hg19UCSC Ensembl
Outerchr6:85947709..85947749hg19UCSC Ensembl
chr6:86004444..86004454hg18UCSC Ensembl
Innerchr6:86004458..86004438hg18UCSC Ensembl
Outerchr6:86004428..86004468hg18UCSC Ensembl
Cytoband6q14.3
Allele length
AssemblyAllele length
hg382201
hg192201
hg182201
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8931132, essv8931139, essv8931135, essv8931121, essv8931117, essv8931127, essv8931116, essv8931128, essv8931129, essv8931119, essv8931136, essv8931138, essv8931140, essv8931120, essv8931118, essv8931124, essv8931123, essv8931122, essv8931134, essv8931125, essv8931133, essv8931131, essv8931113, essv8931130
SamplesNA18947, NA18980, NA18545, NA18940, NA18960, NA18582, NA18949, NA18973, NA18956, NA18579, NA18572, NA18537, NA18566, NA18532, NA18593, NA18945, NA18576, NA18542, NA18961, NA18952, NA18564, NA18943, NA18562, NA18577
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3339265
Frequency
Sample Size185
Observed Gain24
Observed Loss0
Observed Complex0
Frequencyn/a


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