A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3303645



Internal ID14803907
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:55120514..55120515hg38UCSC Ensembl
Innerchr8:55120496..55120533hg38UCSC Ensembl
Outerchr8:55120495..55120534hg38UCSC Ensembl
chr8:56033074..56033075hg19UCSC Ensembl
Innerchr8:56033056..56033093hg19UCSC Ensembl
Outerchr8:56033055..56033094hg19UCSC Ensembl
chr8:56195628..56195629hg18UCSC Ensembl
Innerchr8:56195647..56195610hg18UCSC Ensembl
Outerchr8:56195609..56195648hg18UCSC Ensembl
Cytoband8q12.1
Allele length
AssemblyAllele length
hg38309
hg19309
hg18309
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7797602, essv7821247, essv7821744, essv7814863, essv7806761, essv7810018, essv7788350, essv7813575, essv7829214, essv7802293, essv7791293, essv7790603, essv7795721, essv7834522, essv7834957, essv7830077, essv7807342, essv7771874, essv7783889, essv7776484, essv7820835, essv7824664, essv7783257, essv7796449, essv7788716, essv7824349, essv7818937, essv7770161, essv7807846, essv7794724, essv7823835, essv7785000, essv7780572, essv7798551
SamplesNA11995, NA11829, NA18592, NA12045, NA12751, NA18526, NA12750, NA18558, NA18547, NA18942, NA11992, NA18582, NA18970, NA12156, NA18605, NA12489, NA12872, NA18579, NA18566, NA11919, NA11894, NA18532, NA18576, NA12043, NA18608, NA18542, NA18961, NA06986, NA18609, NA12006, NA07000, NA12776, NA18965, NA18577
Known GenesXKR4
MethodSequencing
Analysis
PlatformRoche 454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3303645
Frequency
Sample Size185
Observed Gain34
Observed Loss0
Observed Complex0
Frequencyn/a


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