A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3343152



Internal ID14843420
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:31471232..31471241hg38UCSC Ensembl
Innerchr6:31471225..31471248hg38UCSC Ensembl
Outerchr6:31471216..31471257hg38UCSC Ensembl
chr6:31439009..31439018hg19UCSC Ensembl
Innerchr6:31439002..31439025hg19UCSC Ensembl
Outerchr6:31438993..31439034hg19UCSC Ensembl
chr6:31546988..31546997hg18UCSC Ensembl
Innerchr6:31547004..31546981hg18UCSC Ensembl
Outerchr6:31546972..31547013hg18UCSC Ensembl
Cytoband6p21.33
Allele length
AssemblyAllele length
hg38246
hg19246
hg18246
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8676384, essv8676382, essv8676383
SamplesNA19239, NA19238, NA19240
Known GenesHCG26
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3343152
Frequency
Sample Size185
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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