A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5922000



Internal ID8899403
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:74567600..74569048hg38UCSC Ensembl
chr7:73981930..73983378hg19UCSC Ensembl
Cytoband7q11.23
Allele length
AssemblyAllele length
hg381449
hg191449
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv2669330
Supporting Variants
SamplesNA19332
Known GenesGTF2IRD1
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv5922000
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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