A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7800033



Internal ID12822729
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 StatusS
Merged Variantsesv3305376
Supporting Variants
SamplesNA11881
Known GenesCUEDC1
MethodSequencing
Analysis
PlatformRoche 454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv7800033
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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