A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3637631



Internal ID6677734
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:2219154..2241871hg38UCSC Ensembl
Innerchr16:2219654..2241371hg38UCSC Ensembl
Outerchr16:2218154..2242871hg38UCSC Ensembl
chr16:2269155..2291872hg19UCSC Ensembl
Innerchr16:2269655..2291372hg19UCSC Ensembl
Outerchr16:2268155..2292872hg19UCSC Ensembl
Cytoband16p13.3
Allele length
AssemblyAllele length
hg3822718
hg1922718
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv15362452
SamplesHG00537
Known GenesDNASE1L2, E4F1, ECI1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3637631
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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