A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5683594



Internal ID8757387
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:72911310..72914126hg38UCSC Ensembl
Outerchr2:72911273..72914176hg38UCSC Ensembl
Innerchr2:73138439..73141255hg19UCSC Ensembl
Outerchr2:73138402..73141305hg19UCSC Ensembl
Cytoband2p13.2
Allele length
AssemblyAllele length
hg382904
hg192904
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv2667511
Supporting Variants
SamplesHG00148
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv5683594
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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