A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2660260



Internal ID2893347
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:162125401..162125538hg38UCSC Ensembl
chr5:161552407..161552544hg19UCSC Ensembl
Cytoband5q34
Allele length
AssemblyAllele length
hg38138
hg19138
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6076130, essv6380769, essv6233360, essv5980695, essv6368814, essv6307347, essv5879600, essv5481411, essv6284552, essv6047898, essv5724423, essv5728666, essv5512725, essv6323595, essv5627829, essv6038136, essv5853022, essv6298097, essv6444469, essv5523864, essv6516035, essv5632808, essv6094819, essv6495382, essv5443762, essv5998551, essv5721108
SamplesNA19404, NA19359, NA19108, NA18488, NA19472, NA19147, NA19761, NA18508, NA19239, NA18856, NA19377, NA19172, NA19374, NA19375, NA19393, NA20126, NA19384, NA19238, NA18910, NA19318, NA19921, NA18909, NA18867, NA19818, NA19350, HG01102, HG01489
Known GenesGABRG2
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2660260
Frequency
Sample Size1151
Observed Gain0
Observed Loss27
Observed Complex0
Frequencyn/a


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