A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5557229



Internal ID8534632
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:42671335..42672781hg38UCSC Ensembl
chr1:43137006..43138452hg19UCSC Ensembl
Cytoband1p34.2
Allele length
AssemblyAllele length
hg381447
hg191447
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv2671740
Supporting Variants
SamplesNA19093
Known GenesPPIH
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv5557229
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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