A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8690703



Internal ID14754953
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:28517007..28518605hg38UCSC Ensembl
Innerchr17:28517605..28518007hg38UCSC Ensembl
Outerchr17:28516007..28519605hg38UCSC Ensembl
chr17:26844025..26845623hg19UCSC Ensembl
Innerchr17:26844623..26845025hg19UCSC Ensembl
Outerchr17:26843025..26846623hg19UCSC Ensembl
chr17:23868152..23869750hg18UCSC Ensembl
Innerchr17:23869152..23868750hg18UCSC Ensembl
Outerchr17:23867152..23870750hg18UCSC Ensembl
Cytoband17q11.2
Allele length
AssemblyAllele length
hg381599
hg191599
hg181599
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3401729
Supporting Variants
SamplesNA19240
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8690703
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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