A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3637563



Internal ID6677667
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:263248..505590hg38UCSC Ensembl
Innerchr16:263398..505440hg38UCSC Ensembl
Outerchr16:263098..505740hg38UCSC Ensembl
chr16:313247..555590hg19UCSC Ensembl
Innerchr16:313397..555440hg19UCSC Ensembl
Outerchr16:313097..555740hg19UCSC Ensembl
Cytoband16p13.3
Allele length
AssemblyAllele length
hg38242343
hg19242344
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv15355201
SamplesHG03095
Known GenesARHGDIG, AXIN1, DECR2, ITFG3, LOC100134368, MRPL28, NME4, PDIA2, RAB11FIP3, RGS11, TMEM8A
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3637563
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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