A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3638120



Internal ID7024906
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:19125517..19174532hg38UCSC Ensembl
Innerchr16:19125667..19174382hg38UCSC Ensembl
Outerchr16:19125367..19174682hg38UCSC Ensembl
chr16:19136839..19185854hg19UCSC Ensembl
Innerchr16:19136989..19185704hg19UCSC Ensembl
Outerchr16:19136689..19186004hg19UCSC Ensembl
Cytoband16p12.3
Allele length
AssemblyAllele length
hg3849016
hg1949016
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv487e214
Supporting Variantsessv15398499, essv15398502, essv15398501, essv15398500, essv15398504, essv15398503, essv15398505
SamplesHG01366, HG00610, NA19917, HG01353, HG00266, HG01498, HG01375
Known GenesSYT17
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3638120
Frequency
Sample Size2504
Observed Gain7
Observed Loss0
Observed Complex0
Frequencyn/a


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