A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3420600



Internal ID14920872
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:85549220..85549231hg38UCSC Ensembl
Innerchr4:85549210..85549238hg38UCSC Ensembl
Outerchr4:85549199..85549249hg38UCSC Ensembl
chr4:86470373..86470384hg19UCSC Ensembl
Innerchr4:86470363..86470391hg19UCSC Ensembl
Outerchr4:86470352..86470402hg19UCSC Ensembl
chr4:86689397..86689408hg18UCSC Ensembl
Innerchr4:86689415..86689387hg18UCSC Ensembl
Outerchr4:86689376..86689426hg18UCSC Ensembl
Cytoband4q21.23
Allele length
AssemblyAllele length
hg38288
hg19288
hg18288
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8919798, essv8919779, essv8919797, essv8919760, essv8919801, essv8919759, essv8919774, essv8919745, essv8919751, essv8919796, essv8919765, essv8919757, essv8919800, essv8919788, essv8919753, essv8919764, essv8919752, essv8919746, essv8919802, essv8919754, essv8919744, essv8919776, essv8919784, essv8919767, essv8919749, essv8919782, essv8919790, essv8919793, essv8919807, essv8919795, essv8919789, essv8919773, essv8919806, essv8919778, essv8919777, essv8919794, essv8919786, essv8919804, essv8919771, essv8919799, essv8919791, essv8919805, essv8919768, essv8919750, essv8919785, essv8919755, essv8919783, essv8919766, essv8919770, essv8919763, essv8919748, essv8919762, essv8919775, essv8919761, essv8919756, essv8919787, essv8919772
SamplesNA18870, NA12043, NA12489, NA12249, NA07347, NA12750, NA18520, NA07037, NA18871, NA19114, NA18501, NA11918, NA18550, NA18570, NA18511, NA10847, NA11931, NA12828, NA18608, NA07051, NA19108, NA18505, NA12287, NA11919, NA18912, NA12004, NA11994, NA12155, NA12761, NA18959, NA11831, NA11995, NA18916, NA18593, NA12144, NA12751, NA19190, NA07346, NA19129, NA06986, NA18522, NA18510, NA18558, NA18504, NA10851, NA18582, NA18907, NA12749, NA18577, NA11830, NA12003, NA18499, NA11829, NA12717, NA18555, NA18519, NA07000
Known GenesARHGAP24
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3420600
Frequency
Sample Size185
Observed Gain57
Observed Loss0
Observed Complex0
Frequencyn/a


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