A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15711250



Internal ID5713066
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:59009807..59014668hg38UCSC Ensembl
Innerchr17:59009807..59014668hg38UCSC Ensembl
Outerchr17:59009307..59015168hg38UCSC Ensembl
chr17:57087168..57092029hg19UCSC Ensembl
Innerchr17:57087168..57092029hg19UCSC Ensembl
Outerchr17:57086668..57092529hg19UCSC Ensembl
Cytoband17q22
Allele length
AssemblyAllele length
hg384862
hg194862
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3640900
Supporting Variants
SamplesHG01064
Known GenesTRIM37
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15711250
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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