A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2667384



Internal ID9586803
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:74393802..74394716hg38UCSC Ensembl
chr7:73808132..73809046hg19UCSC Ensembl
Cytoband7q11.23
Allele length
AssemblyAllele length
hg38915
hg19915
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5505668, essv5545449, essv6414701, essv6099993, essv6572770, essv6381045, essv6595181, essv6310318, essv6254984, essv6196134, essv6281964, essv6128354, essv6414912, essv5741212, essv6342136, essv5903588, essv6296128, essv5708161, essv5824038, essv5414543, essv6493028, essv5942751, essv5701878, essv5512547, essv6089920, essv5843607, essv6416107, essv5593909
SamplesHG00418, NA07056, HG01389, NA19010, HG01491, NA20786, NA12058, HG00280, HG00331, HG01171, NA19463, NA20807, NA19083, NA07048, HG01136, NA19676, NA20790, NA20826, NA18986, NA19005, NA18942, NA20828, NA19332, NA20815, NA19382, NA20813, NA19729, HG01377
Known GenesCLIP2
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2667384
Frequency
Sample Size1151
Observed Gain0
Observed Loss28
Observed Complex0
Frequencyn/a


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