A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2678594



Internal ID2911681
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:102890806..102891234hg38UCSC Ensembl
chr4:103811963..103812391hg19UCSC Ensembl
Cytoband4q24
Allele length
AssemblyAllele length
hg38429
hg19429
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6188730, essv5691582, essv5856624, essv6086717, essv5905041, essv6592135, essv6156875, essv6531495, essv5722206, essv5793515, essv5466540, essv5404500, essv6565519, essv6407044, essv5619849, essv6229337, essv6146831, essv5733415, essv5905870, essv6406356, essv6338666, essv6479358, essv6444758, essv6000146, essv5647546, essv5632443, essv6122714, essv5483037
SamplesNA18870, HG00734, NA19404, HG01342, NA19093, NA19311, NA19449, NA19461, NA19379, NA19834, NA19257, NA18505, NA19463, NA19982, NA19239, NA18916, NA19190, NA19374, NA18522, NA19238, NA18510, NA18942, NA18910, NA18909, NA19391, NA19240, NA06994, NA07000
Known GenesCISD2, SLC9B1
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2678594
Frequency
Sample Size1151
Observed Gain0
Observed Loss28
Observed Complex0
Frequencyn/a


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