A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2664337



Internal ID9930442
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:2748610..2748746hg38UCSC Ensembl
chr4:2750337..2750473hg19UCSC Ensembl
Cytoband4p16.3
Allele length
AssemblyAllele length
hg38137
hg19137
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5850255, essv6236575, essv5755805, essv6585293, essv5607361, essv5420764, essv6473679, essv6493836, essv6304727, essv5656767, essv6583295, essv6564481, essv5945874, essv5792550, essv6019357
SamplesNA19394, NA19379, NA19404, HG00236, NA19371, NA19385, HG01353, NA19403, NA19391, HG01390, NA11919, HG01101, NA19395, NA19380, HG01342
Known GenesTNIP2
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2664337
Frequency
Sample Size1151
Observed Gain0
Observed Loss15
Observed Complex0
Frequencyn/a


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