A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3637765



Internal ID6677866
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:6778681..6813721hg38UCSC Ensembl
Innerchr16:6778681..6813721hg38UCSC Ensembl
Outerchr16:6778419..6813985hg38UCSC Ensembl
chr16:6828682..6863722hg19UCSC Ensembl
Innerchr16:6828682..6863722hg19UCSC Ensembl
Outerchr16:6828420..6863986hg19UCSC Ensembl
Cytoband16p13.3
Allele length
AssemblyAllele length
hg3835041
hg1935041
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv15365533, essv15365531, essv15365530, essv15365529, essv15365532, essv15365528
SamplesHG03237, NA20756, HG00311, HG00290, HG01880, NA20522
Known GenesRBFOX1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3637765
Frequency
Sample Size2504
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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