A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv472e214



Internal ID20121895
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:152902..163827hg38UCSC Ensembl
chr16:202901..213826hg19UCSC Ensembl
Cytoband16p13.3
Allele length
AssemblyAllele length
hg3810926
hg1910926
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv3637544, esv3637545
SamplesHG02477, HG02330, NA19321, HG03985, NA18630, HG02164, HG02600, HG01431, NA12813, HG02952, HG02508, NA19184, HG03048, HG02497, NA19017, HG03833, HG03572, NA19143, NA18912, HG03021, HG01272, HG03436, NA18959, HG03520, HG03126, NA19786, HG02442, NA18498, HG03168, HG02938, NA19175, HG03028, HG03108, HG03018, HG02481, NA19475, HG02642
Known GenesHBZ
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)dgv472e214
Frequency
Sample Size2504
Observed Gain0
Observed Loss37
Observed Complex0
Frequencyn/a


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