A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3628896



Internal ID7015718
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:25480842..25484319hg38UCSC Ensembl
chr12:25633776..25637253hg19UCSC Ensembl
Cytoband12p12.1
Allele length
AssemblyAllele length
hg383478
hg193478
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv14416043, essv14416024, essv14416036, essv14416050, essv14416037, essv14416047, essv14416032, essv14416034, essv14416048, essv14416052, essv14416045, essv14416026, essv14416030, essv14416039, essv14416033, essv14416040, essv14416035, essv14416038, essv14416049, essv14416028, essv14416051, essv14416044, essv14416027, essv14416041, essv14416046, essv14416025, essv14416042, essv14416031, essv14416029
SamplesHG03135, HG01064, NA19457, HG02981, NA20340, HG03352, NA19189, NA19239, HG03267, NA18908, HG03169, HG02968, HG03124, NA19257, NA19625, HG01990, NA19108, NA19256, NA19149, NA19147, HG03117, HG01958, NA18501, NA20348, HG03066, NA19096, HG01914, HG03445, HG03198
Known GenesIFLTD1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3628896
Frequency
Sample Size2504
Observed Gain0
Observed Loss29
Observed Complex0
Frequencyn/a


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