A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5801304



Internal ID8778707
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:101882170..101883376hg38UCSC Ensembl
chr12:102275948..102277154hg19UCSC Ensembl
Cytoband12q23.2
Allele length
AssemblyAllele length
hg381207
hg191207
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv2674791
Supporting Variants
SamplesHG00607
Known GenesDRAM1
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv5801304
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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