A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2659743



Internal ID2892830
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:103625672..103627674hg38UCSC Ensembl
chr7:103266119..103268121hg19UCSC Ensembl
Cytoband7q22.1
Allele length
AssemblyAllele length
hg382003
hg192003
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6303011, essv5659726, essv6003949, essv5591627, essv5917643, essv5476075, essv5716394, essv6585882, essv5615579
SamplesNA12286, HG00375, HG00266, HG00250, NA20769, NA20534, NA12413, NA11830, NA12045
Known GenesRELN
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2659743
Frequency
Sample Size1151
Observed Gain0
Observed Loss9
Observed Complex0
Frequencyn/a


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