A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2671740



Internal ID9591159
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 Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5557229
SamplesNA19093
Known GenesPPIH
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2671740
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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