A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3639562



Internal ID6679653
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:88851052..88851832hg38UCSC Ensembl
Innerchr16:88851052..88851832hg38UCSC Ensembl
Outerchr16:88850771..88852087hg38UCSC Ensembl
chr16:88917460..88918240hg19UCSC Ensembl
Innerchr16:88917460..88918240hg19UCSC Ensembl
Outerchr16:88917179..88918495hg19UCSC Ensembl
Cytoband16q24.3
Allele length
AssemblyAllele length
hg38781
hg19781
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv15567767, essv15567768, essv15567769
SamplesHG00536, NA18757, NA19064
Known GenesGALNS
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3639562
Frequency
Sample Size2504
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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