A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3396345



Internal ID14896623
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:7567899..7567918hg38UCSC Ensembl
Innerchr16:7567872..7567945hg38UCSC Ensembl
Outerchr16:7567853..7567964hg38UCSC Ensembl
chr16:7617901..7617920hg19UCSC Ensembl
Innerchr16:7617874..7617947hg19UCSC Ensembl
Outerchr16:7617855..7617966hg19UCSC Ensembl
chr16:7557902..7557921hg18UCSC Ensembl
Innerchr16:7557948..7557875hg18UCSC Ensembl
Outerchr16:7557856..7557967hg18UCSC Ensembl
Cytoband16p13.2
Allele length
AssemblyAllele length
hg3852
hg1952
hg1852
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7865851, essv7865850, essv7865852
SamplesNA18520, NA18961, NA11992
Known GenesRBFOX1
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3396345
Frequency
Sample Size185
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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