A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3307588



Internal ID14807850
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:73415155..73415156hg38UCSC Ensembl
Innerchr17:73415133..73415178hg38UCSC Ensembl
Outerchr17:73415132..73415179hg38UCSC Ensembl
chr17:71411294..71411295hg19UCSC Ensembl
Innerchr17:71411272..71411317hg19UCSC Ensembl
Outerchr17:71411271..71411318hg19UCSC Ensembl
chr17:68922889..68922890hg18UCSC Ensembl
Innerchr17:68922912..68922867hg18UCSC Ensembl
Outerchr17:68922866..68922913hg18UCSC Ensembl
Cytoband17q25.1
Allele length
AssemblyAllele length
hg385727
hg195727
hg185727
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7769022
SamplesNA12287
Known GenesSDK2
MethodSequencing
Analysis
PlatformRoche 454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3307588
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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