A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15441785



Internal ID6527452
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 StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3638390
Supporting Variants
SamplesNA20544
Known GenesSETD1A
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15441785
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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