A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15426894



Internal ID415522
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:23498233..23503480hg38UCSC Ensembl
Innerchr16:23498233..23503480hg38UCSC Ensembl
Outerchr16:23498073..23503629hg38UCSC Ensembl
chr16:23509554..23514801hg19UCSC Ensembl
Innerchr16:23509554..23514801hg19UCSC Ensembl
Outerchr16:23509394..23514950hg19UCSC Ensembl
Cytoband16p12.2
Allele length
AssemblyAllele length
hg385248
hg195248
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3638228
Supporting Variants
SamplesHG00125
Known GenesGGA2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15426894
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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