A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3305376



Internal ID14805638
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:57915231..57915232hg38UCSC Ensembl
Innerchr17:57915214..57915249hg38UCSC Ensembl
Outerchr17:57915213..57915250hg38UCSC Ensembl
chr17:55992592..55992593hg19UCSC Ensembl
Innerchr17:55992575..55992610hg19UCSC Ensembl
Outerchr17:55992574..55992611hg19UCSC Ensembl
chr17:53347591..53347592hg18UCSC Ensembl
Innerchr17:53347609..53347574hg18UCSC Ensembl
Outerchr17:53347573..53347610hg18UCSC Ensembl
Cytoband17q22
Allele length
AssemblyAllele length
hg38178
hg19178
hg18178
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7777894, essv7799588, essv7809258, essv7825972, essv7782199, essv7814141, essv7802121, essv7821476, essv7792256, essv7800033, essv7825369, essv7776205, essv7791969, essv7780821, essv7779336, essv7818464, essv7793070, essv7823159, essv7832961, essv7816100, essv7781325, essv7817213
SamplesNA11881, NA18523, NA19114, NA19093, NA18516, NA18489, NA19210, NA18507, NA19147, NA18912, NA18508, NA19239, NA07357, NA07346, NA19141, NA18907, NA12749, NA12812, NA19116, NA19099, NA18853, NA18519
Known GenesCUEDC1
MethodSequencing
Analysis
PlatformRoche 454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3305376
Frequency
Sample Size185
Observed Gain22
Observed Loss0
Observed Complex0
Frequencyn/a


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