A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3303248



Internal ID15150196
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:59482874..59482875hg38UCSC Ensembl
Innerchr18:59482856..59482893hg38UCSC Ensembl
Outerchr18:59482855..59482894hg38UCSC Ensembl
chr18:57150106..57150107hg19UCSC Ensembl
Innerchr18:57150088..57150125hg19UCSC Ensembl
Outerchr18:57150087..57150126hg19UCSC Ensembl
chr18:55301086..55301087hg18UCSC Ensembl
Innerchr18:55301105..55301068hg18UCSC Ensembl
Outerchr18:55301067..55301106hg18UCSC Ensembl
Cytoband18q21.32
Allele length
AssemblyAllele length
hg38313
hg19313
hg18313
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7824814, essv7827246, essv7797781, essv7808754, essv7771123, essv7815630, essv7806834, essv7824402, essv7772286, essv7835625, essv7784927, essv7809756, essv7801909, essv7771415, essv7802970, essv7814835, essv7798320, essv7775739, essv7790804, essv7823800, essv7774930, essv7791285, essv7777314, essv7780976, essv7779083, essv7794954, essv7781540, essv7822765, essv7835214, essv7813172, essv7822170, essv7833922
SamplesNA11995, NA18592, NA12814, NA10851, NA12414, NA18526, NA18547, NA11918, NA07347, NA18582, NA12287, NA18498, NA12761, NA12044, NA12489, NA12872, NA18572, NA18948, NA18537, NA18555, NA12144, NA18570, NA18576, NA12043, NA12716, NA18952, NA07037, NA12749, NA19093, NA07000, NA12776, NA18577
Known GenesCCBE1
MethodSequencing
Analysis
PlatformRoche 454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3303248
Frequency
Sample Size185
Observed Gain32
Observed Loss0
Observed Complex0
Frequencyn/a


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