A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv504e199



Internal ID20123806
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:72049451..72076250hg38UCSC Ensembl
chr16:72083350..72110149hg19UCSC Ensembl
Cytoband16q22.2
Allele length
AssemblyAllele length
hg3826800
hg1926800
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv2661222, esv2671318
SamplesHG00592, HG00536, HG00654, HG00663, NA18560, HG00635, NA18632, NA18543, HG00607, HG00578, HG00656, HG01082
Known GenesHP, HPR
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)dgv504e199
Frequency
Sample Size1151
Observed Gain0
Observed Loss12
Observed Complex0
Frequencyn/a


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