A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3638232



Internal ID7025018
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:23627203..23632845hg38UCSC Ensembl
Innerchr16:23627251..23632797hg38UCSC Ensembl
Outerchr16:23627155..23632893hg38UCSC Ensembl
chr16:23638524..23644166hg19UCSC Ensembl
Innerchr16:23638572..23644118hg19UCSC Ensembl
Outerchr16:23638476..23644214hg19UCSC Ensembl
Cytoband16p12.2
Allele length
AssemblyAllele length
hg385643
hg195643
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv496e214
Supporting Variantsessv15426937, essv15426936, essv15426938
SamplesHG03857, NA20539, NA19917
Known GenesPALB2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3638232
Frequency
Sample Size2504
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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