A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2675449



Internal ID9941554
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:156702305..156702918hg38UCSC Ensembl
Outerchr1:156702148..156703071hg38UCSC Ensembl
Innerchr1:156672097..156672710hg19UCSC Ensembl
Outerchr1:156671940..156672863hg19UCSC Ensembl
Cytoband1q23.1
Allele length
AssemblyAllele length
hg38924
hg19924
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6286455, essv6230824, essv5571493, essv6471992, essv5983005
SamplesHG00189, HG00233, HG00335, NA19707, NA19818
Known GenesCRABP2
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2675449
Frequency
Sample Size1151
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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