A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3638390



Internal ID7025176
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:30972403..30978091hg38UCSC Ensembl
Innerchr16:30972403..30978091hg38UCSC Ensembl
Outerchr16:30972219..30978303hg38UCSC Ensembl
chr16:30983724..30989412hg19UCSC Ensembl
Innerchr16:30983724..30989412hg19UCSC Ensembl
Outerchr16:30983540..30989624hg19UCSC Ensembl
Cytoband16p11.2
Allele length
AssemblyAllele length
hg385689
hg195689
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv15441783, essv15441782, essv15441780, essv15441785, essv15441786, essv15441784, essv15441781
SamplesNA12717, HG01710, HG00264, HG00743, NA20778, NA20544, HG01491
Known GenesSETD1A
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3638390
Frequency
Sample Size2504
Observed Gain0
Observed Loss7
Observed Complex0
Frequencyn/a


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