A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3323436



Internal ID15170411
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:83622712..83622712hg38UCSC Ensembl
Innerchr6:83622711..83622713hg38UCSC Ensembl
Outerchr6:83622652..83622762hg38UCSC Ensembl
chr6:84332431..84332431hg19UCSC Ensembl
Innerchr6:84332430..84332432hg19UCSC Ensembl
Outerchr6:84332371..84332481hg19UCSC Ensembl
chr6:84389150..84389150hg18UCSC Ensembl
Innerchr6:84389151..84389149hg18UCSC Ensembl
Outerchr6:84389090..84389200hg18UCSC Ensembl
Cytoband6q14.2
Allele length
AssemblyAllele length
hg3875
hg1975
hg1875
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8839159
SamplesNA19240
Known GenesSNAP91
MethodSequencing
Analysis
Platform454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3323436
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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