A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3367670



Internal ID14867929
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:30688147..30688147hg38UCSC Ensembl
Innerchr6:30688146..30688148hg38UCSC Ensembl
Outerchr6:30688097..30688197hg38UCSC Ensembl
chr6:30655924..30655924hg19UCSC Ensembl
Innerchr6:30655923..30655925hg19UCSC Ensembl
Outerchr6:30655874..30655974hg19UCSC Ensembl
chr6:30763903..30763903hg18UCSC Ensembl
Innerchr6:30763904..30763902hg18UCSC Ensembl
Outerchr6:30763853..30763953hg18UCSC Ensembl
Cytoband6p21.33
Allele length
AssemblyAllele length
hg38521
hg19521
hg18521
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8741253
SamplesNA19240
Known GenesNRM
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3367670
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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