A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2669330



Internal ID9588749
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 Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5922000, essv6136821, essv6587228, essv6211782, essv6148245, essv5432701
SamplesHG00313, NA18559, NA07048, NA19332, HG00513, NA19391
Known GenesGTF2IRD1
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2669330
Frequency
Sample Size1151
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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